nsv3904824
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:16
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1,608,046
- Description:
See descriptions for individual calls in download files
- ClinVar: RCV000134219.5
- ClinVar: RCV000135484.5
- ClinVar: RCV000139942.4
- ClinVar: RCV000140902.5
- ClinVar: RCV000141344.5
- ClinVar: RCV000141896.4
- ClinVar: RCV000141980.4
- ClinVar: RCV000142030.5
- ClinVar: RCV000142212.5
- ClinVar: RCV000143128.5
- ClinVar: RCV000143304.4
- ClinVar: RCV000143509.4
- ClinVar: RCV000143533.4
- ClinVar: RCV000143612.5
- ClinVar: RCV000143646.4
- ClinVar: RCV000143745.5
- ClinVar: VCV000144815.3
- ClinVar: VCV000146162.3
- ClinVar: VCV000151215.2
- ClinVar: VCV000152341.2
- ClinVar: VCV000152837.3
- ClinVar: VCV000153549.2
- ClinVar: VCV000153679.2
- ClinVar: VCV000153748.2
- ClinVar: VCV000154049.2
- ClinVar: VCV000155061.2
- ClinVar: VCV000155237.2
- ClinVar: VCV000155442.2
- ClinVar: VCV000155466.2
- ClinVar: VCV000155545.2
- ClinVar: VCV000155579.2
- ClinVar: VCV000155678.2
- dbVar: nssv13639489
- dbVar: nssv13648995
- dbVar: nssv1608286
- dbVar: nssv1608296
- dbVar: nssv1610453
- dbVar: nssv1610495
- dbVar: nssv3394941
- dbVar: nssv3395054
- dbVar: nssv3395147
- dbVar: nssv3395203
- dbVar: nssv3395233
- dbVar: nssv3395362
- dbVar: nssv3396495
- dbVar: nssv3397138
- dbVar: nssv3397155
- dbVar: nssv3397225
- dbVar: nssv3397287
- dbVar: nssv3397435
- dbVar: nssv583313
- dbVar: nssv706133
- dbVar: nsv497282
- dbVar: nsv529164
- dbVar: nsv931100
- dbVar: nsv931164
- dbVar: nsv932259
- dbVar: nsv932305
- dbVar: nsv993446
- dbVar: nsv995543
- dbVar: nsv995557
- dbVar: nsv995619
- dbVar: nsv995673
- dbVar: nsv995742
- dbVar: nsv995842
- dbVar: nsv995913
- dbVar: nsv996043
- dbVar: nsv996178
- Overlapping Genes
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 4019 SVs from 107 studies. See in: genome view
Overlapping variant regions from other studies: 3509 SVs from 107 studies. See in: genome view
Overlapping variant regions from other studies: 1014 SVs from 27 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3904824 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 146,964,168 | 148,572,213 |
| nsv3904824 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 146,105,170 | 147,929,323 |
| nsv3904824 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 144,816,527 | 146,395,947 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132736 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000134219.5, VCV000144815.3 | 3 |
| nssv15132906 | copy number loss | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV000135484.5, VCV000146162.3 | 1 |
| nssv15137037 | copy number gain | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV000142212.5, VCV000154049.2 | 3 |
| nssv15137537 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000141896.4, VCV000153549.2 | 3 |
| nssv15137697 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000139942.4, VCV000151215.2 | 1 |
| nssv15138143 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000141344.5, VCV000152837.3 | 1 |
| nssv15138491 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000140902.5, VCV000152341.2 | 1 |
| nssv15138714 | copy number gain | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV000143128.5, VCV000155061.2 | 3 |
| nssv15138795 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000143304.4, VCV000155237.2 | 1 |
| nssv15138870 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000143509.4, VCV000155442.2 | 3 |
| nssv15138883 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000143533.4, VCV000155466.2 | 3 |
| nssv15139322 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000143612.5, VCV000155545.2 | 1 |
| nssv15139344 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000143745.5, VCV000155678.2 | 1 |
| nssv15139438 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000141980.4, VCV000153679.2 | 1 |
| nssv15139459 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000142030.5, VCV000153748.2 | 1 |
| nssv15139624 | copy number gain | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV000143646.4, VCV000155579.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132736 | Submitted genomic | NC_000001.11:g.(?_ 146964168)_(148572 213_?)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 146,964,168 | 148,572,213 |
| nssv15132906 | Submitted genomic | NC_000001.11:g.(?_ 146964168)_(148572 213_?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 146,964,168 | 148,572,213 |
| nssv15137037 | Submitted genomic | NC_000001.11:g.(?_ 146964168)_(148572 213_?)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 146,964,168 | 148,572,213 |
| nssv15137537 | Submitted genomic | NC_000001.11:g.(?_ 146964168)_(148572 213_?)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 146,964,168 | 148,572,213 |
| nssv15137697 | Submitted genomic | NC_000001.11:g.(?_ 146964168)_(148572 213_?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 146,964,168 | 148,572,213 |
| nssv15138143 | Submitted genomic | NC_000001.11:g.(?_ 146964168)_(148572 213_?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 146,964,168 | 148,572,213 |
| nssv15138491 | Submitted genomic | NC_000001.11:g.(?_ 146964168)_(148572 213_?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 146,964,168 | 148,572,213 |
| nssv15138714 | Submitted genomic | NC_000001.11:g.(?_ 146964168)_(148572 213_?)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 146,964,168 | 148,572,213 |
| nssv15138795 | Submitted genomic | NC_000001.11:g.(?_ 146964168)_(148572 213_?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 146,964,168 | 148,572,213 |
| nssv15138870 | Submitted genomic | NC_000001.11:g.(?_ 146964168)_(148572 213_?)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 146,964,168 | 148,572,213 |
| nssv15138883 | Submitted genomic | NC_000001.11:g.(?_ 146964168)_(148572 213_?)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 146,964,168 | 148,572,213 |
| nssv15139322 | Submitted genomic | NC_000001.11:g.(?_ 146964168)_(148572 213_?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 146,964,168 | 148,572,213 |
| nssv15139344 | Submitted genomic | NC_000001.11:g.(?_ 146964168)_(148572 213_?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 146,964,168 | 148,572,213 |
| nssv15139438 | Submitted genomic | NC_000001.11:g.(?_ 146964168)_(148572 213_?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 146,964,168 | 148,572,213 |
| nssv15139459 | Submitted genomic | NC_000001.11:g.(?_ 146964168)_(148572 213_?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 146,964,168 | 148,572,213 |
| nssv15139624 | Submitted genomic | NC_000001.11:g.(?_ 146964168)_(148572 213_?)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 146,964,168 | 148,572,213 |
| nssv15138714 | Submitted genomic | NC_000001.10:g.(?_ 145886339)_(147926 347_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 145,886,339 | 147,926,347 |
| nssv15139322 | Submitted genomic | NC_000001.10:g.(?_ 145888925)_(147926 347_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 145,888,925 | 147,926,347 |
| nssv15138883 | Submitted genomic | NC_000001.10:g.(?_ 145895747)_(147831 170_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 145,895,747 | 147,831,170 |
| nssv15138870 | Submitted genomic | NC_000001.10:g.(?_ 145932454)_(147819 294_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 145,932,454 | 147,819,294 |
| nssv15138491 | Submitted genomic | NC_000001.10:g.(?_ 145932455)_(147385 641_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 145,932,455 | 147,385,641 |
| nssv15132736 | Submitted genomic | NC_000001.10:g.(?_ 146038914)_(147838 700_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 146,038,914 | 147,838,700 |
| nssv15139624 | Submitted genomic | NC_000001.10:g.(?_ 146043713)_(147830 830_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 146,043,713 | 147,830,830 |
| nssv15139438 | Submitted genomic | NC_000001.10:g.(?_ 146043713)_(147844 758_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 146,043,713 | 147,844,758 |
| nssv15138143 | Submitted genomic | NC_000001.10:g.(?_ 146053414)_(147860 552_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 146,053,414 | 147,860,552 |
| nssv15132906 | Submitted genomic | NC_000001.10:g.(?_ 146074031)_(147834 140_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 146,074,031 | 147,834,140 |
| nssv15137037 | Submitted genomic | NC_000001.10:g.(?_ 146096701)_(147832 190_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 146,096,701 | 147,832,190 |
| nssv15137537 | Submitted genomic | NC_000001.10:g.(?_ 146101790)_(147830 830_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 146,101,790 | 147,830,830 |
| nssv15139459 | Submitted genomic | NC_000001.10:g.(?_ 146101790)_(147897 962_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 146,101,790 | 147,897,962 |
| nssv15137697 | Submitted genomic | NC_000001.10:g.(?_ 146105170)_(147830 830_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 146,105,170 | 147,830,830 |
| nssv15139344 | Submitted genomic | NC_000001.10:g.(?_ 146105170)_(147929 323_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 146,105,170 | 147,929,323 |
| nssv15138795 | Submitted genomic | NC_000001.10:g.(?_ 146145424)_(147929 323_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 146,145,424 | 147,929,323 |
| nssv15138714 | Submitted genomic | NC_000001.9:g.(?_1 44597696)_(1463929 71_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 144,597,696 | 146,392,971 |
| nssv15139322 | Submitted genomic | NC_000001.9:g.(?_1 44600282)_(1463929 71_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 144,600,282 | 146,392,971 |
| nssv15138883 | Submitted genomic | NC_000001.9:g.(?_1 44607104)_(1462977 94_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 144,607,104 | 146,297,794 |
| nssv15138870 | Submitted genomic | NC_000001.9:g.(?_1 44643811)_(1462859 18_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 144,643,811 | 146,285,918 |
| nssv15138491 | Submitted genomic | NC_000001.9:g.(?_1 44643812)_(1458522 65_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 144,643,812 | 145,852,265 |
| nssv15132736 | Submitted genomic | NC_000001.9:g.(?_1 44750271)_(1463053 24_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 144,750,271 | 146,305,324 |
| nssv15139624 | Submitted genomic | NC_000001.9:g.(?_1 44755070)_(1462974 54_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 144,755,070 | 146,297,454 |
| nssv15139438 | Submitted genomic | NC_000001.9:g.(?_1 44755070)_(1463113 82_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 144,755,070 | 146,311,382 |
| nssv15138143 | Submitted genomic | NC_000001.9:g.(?_1 44764771)_(1463271 76_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 144,764,771 | 146,327,176 |
| nssv15132906 | Submitted genomic | NC_000001.9:g.(?_1 44785388)_(1463007 64_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 144,785,388 | 146,300,764 |
| nssv15137037 | Submitted genomic | NC_000001.9:g.(?_1 44808058)_(1462988 14_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 144,808,058 | 146,298,814 |
| nssv15137537 | Submitted genomic | NC_000001.9:g.(?_1 44813147)_(1462974 54_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 144,813,147 | 146,297,454 |
| nssv15139459 | Submitted genomic | NC_000001.9:g.(?_1 44813147)_(1463645 86_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 144,813,147 | 146,364,586 |
| nssv15137697 | Submitted genomic | NC_000001.9:g.(?_1 44816527)_(1462974 54_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 144,816,527 | 146,297,454 |
| nssv15139344 | Submitted genomic | NC_000001.9:g.(?_1 44816527)_(1463959 47_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 144,816,527 | 146,395,947 |
| nssv15138795 | Submitted genomic | NC_000001.9:g.(?_1 44856781)_(1463959 47_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 144,856,781 | 146,395,947 |
No validation data were submitted for this variant
Clinical Assertions There exist variant calls with the same type and copy number with different clinical interpretation.
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132736 | GRCh37: NC_000001.10:g.(?_146038914)_(147838700_?)dup, GRCh38: NC_000001.11:g.(?_146964168)_(148572213_?)dup, NCBI36: NC_000001.9:g.(?_144750271)_(146305324_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000134219.5, VCV000144815.3 | 3 |
| nssv15132906 | GRCh37: NC_000001.10:g.(?_146074031)_(147834140_?)del, GRCh38: NC_000001.11:g.(?_146964168)_(148572213_?)del, NCBI36: NC_000001.9:g.(?_144785388)_(146300764_?)del | copy number loss | not provided | See cases | Likely pathogenic | ClinVar | RCV000135484.5, VCV000146162.3 | 1 |
| nssv15137037 | GRCh37: NC_000001.10:g.(?_146096701)_(147832190_?)dup, GRCh38: NC_000001.11:g.(?_146964168)_(148572213_?)dup, NCBI36: NC_000001.9:g.(?_144808058)_(146298814_?)dup | copy number gain | paternal | See cases | Likely pathogenic | ClinVar | RCV000142212.5, VCV000154049.2 | 3 |
| nssv15137537 | GRCh37: NC_000001.10:g.(?_146101790)_(147830830_?)dup, GRCh38: NC_000001.11:g.(?_146964168)_(148572213_?)dup, NCBI36: NC_000001.9:g.(?_144813147)_(146297454_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000141896.4, VCV000153549.2 | 3 |
| nssv15137697 | GRCh37: NC_000001.10:g.(?_146105170)_(147830830_?)del, GRCh38: NC_000001.11:g.(?_146964168)_(148572213_?)del, NCBI36: NC_000001.9:g.(?_144816527)_(146297454_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000139942.4, VCV000151215.2 | 1 |
| nssv15138143 | GRCh37: NC_000001.10:g.(?_146053414)_(147860552_?)del, GRCh38: NC_000001.11:g.(?_146964168)_(148572213_?)del, NCBI36: NC_000001.9:g.(?_144764771)_(146327176_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000141344.5, VCV000152837.3 | 1 |
| nssv15138491 | GRCh37: NC_000001.10:g.(?_145932455)_(147385641_?)del, GRCh38: NC_000001.11:g.(?_146964168)_(148572213_?)del, NCBI36: NC_000001.9:g.(?_144643812)_(145852265_?)del | copy number loss | paternal | See cases | Pathogenic | ClinVar | RCV000140902.5, VCV000152341.2 | 1 |
| nssv15138714 | GRCh37: NC_000001.10:g.(?_145886339)_(147926347_?)dup, GRCh38: NC_000001.11:g.(?_146964168)_(148572213_?)dup, NCBI36: NC_000001.9:g.(?_144597696)_(146392971_?)dup | copy number gain | maternal | See cases | Likely pathogenic | ClinVar | RCV000143128.5, VCV000155061.2 | 3 |
| nssv15138795 | GRCh37: NC_000001.10:g.(?_146145424)_(147929323_?)del, GRCh38: NC_000001.11:g.(?_146964168)_(148572213_?)del, NCBI36: NC_000001.9:g.(?_144856781)_(146395947_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000143304.4, VCV000155237.2 | 1 |
| nssv15138870 | GRCh37: NC_000001.10:g.(?_145932454)_(147819294_?)dup, GRCh38: NC_000001.11:g.(?_146964168)_(148572213_?)dup, NCBI36: NC_000001.9:g.(?_144643811)_(146285918_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000143509.4, VCV000155442.2 | 3 |
| nssv15138883 | GRCh37: NC_000001.10:g.(?_145895747)_(147831170_?)dup, GRCh38: NC_000001.11:g.(?_146964168)_(148572213_?)dup, NCBI36: NC_000001.9:g.(?_144607104)_(146297794_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000143533.4, VCV000155466.2 | 3 |
| nssv15139322 | GRCh37: NC_000001.10:g.(?_145888925)_(147926347_?)del, GRCh38: NC_000001.11:g.(?_146964168)_(148572213_?)del, NCBI36: NC_000001.9:g.(?_144600282)_(146392971_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000143612.5, VCV000155545.2 | 1 |
| nssv15139344 | GRCh37: NC_000001.10:g.(?_146105170)_(147929323_?)del, GRCh38: NC_000001.11:g.(?_146964168)_(148572213_?)del, NCBI36: NC_000001.9:g.(?_144816527)_(146395947_?)del | copy number loss | see ClinVar for details | See cases | Pathogenic | ClinVar | RCV000143745.5, VCV000155678.2 | 1 |
| nssv15139438 | GRCh37: NC_000001.10:g.(?_146043713)_(147844758_?)del, GRCh38: NC_000001.11:g.(?_146964168)_(148572213_?)del, NCBI36: NC_000001.9:g.(?_144755070)_(146311382_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000141980.4, VCV000153679.2 | 1 |
| nssv15139459 | GRCh37: NC_000001.10:g.(?_146101790)_(147897962_?)del, GRCh38: NC_000001.11:g.(?_146964168)_(148572213_?)del, NCBI36: NC_000001.9:g.(?_144813147)_(146364586_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000142030.5, VCV000153748.2 | 1 |
| nssv15139624 | GRCh37: NC_000001.10:g.(?_146043713)_(147830830_?)dup, GRCh38: NC_000001.11:g.(?_146964168)_(148572213_?)dup, NCBI36: NC_000001.9:g.(?_144755070)_(146297454_?)dup | copy number gain | see ClinVar for details | See cases | Likely pathogenic | ClinVar | RCV000143646.4, VCV000155579.2 | 3 |