nsv3900414
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:2,055,546
- Description:GRCh38/hg38 1q21.1-21.2(chr1:147031738-149087283)x3 AND See cases
- ClinVar: RCV000142100.5
- ClinVar: RCV000142150.4
- ClinVar: RCV000143769.5
- ClinVar: VCV000153881.2
- ClinVar: VCV000153963.2
- ClinVar: VCV000155702.2
- dbVar: nssv14081994
- dbVar: nssv3395098
- dbVar: nssv3395202
- dbVar: nssv3395459
- dbVar: nsv995875
- dbVar: nsv995957
- dbVar: nsv996253
- 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: 5272 SVs from 117 studies. See in: genome view
Overlapping variant regions from other studies: 3026 SVs from 106 studies. See in: genome view
Overlapping variant regions from other studies: 907 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3900414 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 147,031,738 | 149,087,283 |
| nsv3900414 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 146,503,291 | 147,819,815 |
| nsv3900414 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 144,969,915 | 146,286,439 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15137017 | copy number gain | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV000142100.5, VCV000153881.2 | 3 |
| nssv15138285 | copy number gain | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV000142150.4, VCV000153963.2 | 3 |
| nssv15139671 | copy number gain | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV000143769.5, VCV000155702.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15137017 | Submitted genomic | NC_000001.11:g.(?_ 147031738)_(149087 283_?)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 147,031,738 | 149,087,283 |
| nssv15138285 | Submitted genomic | NC_000001.11:g.(?_ 147031738)_(149087 283_?)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 147,031,738 | 149,087,283 |
| nssv15139671 | Submitted genomic | NC_000001.11:g.(?_ 147031738)_(149087 283_?)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 147,031,738 | 149,087,283 |
| nssv15138285 | Submitted genomic | NC_000001.10:g.(?_ 146503291)_(147819 294_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 146,503,291 | 147,819,294 |
| nssv15139671 | Submitted genomic | NC_000001.10:g.(?_ 146503291)_(147819 815_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 146,503,291 | 147,819,815 |
| nssv15137017 | Submitted genomic | NC_000001.10:g.(?_ 146503291)_(147830 830_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 146,503,291 | 147,830,830 |
| nssv15138285 | Submitted genomic | NC_000001.9:g.(?_1 44969915)_(1462859 18_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 144,969,915 | 146,285,918 |
| nssv15139671 | Submitted genomic | NC_000001.9:g.(?_1 44969915)_(1462864 39_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 144,969,915 | 146,286,439 |
| nssv15137017 | Submitted genomic | NC_000001.9:g.(?_1 44969915)_(1462974 54_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 144,969,915 | 146,297,454 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15137017 | GRCh37: NC_000001.10:g.(?_146503291)_(147830830_?)dup, GRCh38: NC_000001.11:g.(?_147031738)_(149087283_?)dup, NCBI36: NC_000001.9:g.(?_144969915)_(146297454_?)dup | copy number gain | not provided | See cases | Likely pathogenic | ClinVar | RCV000142100.5, VCV000153881.2 | 3 |
| nssv15138285 | GRCh37: NC_000001.10:g.(?_146503291)_(147819294_?)dup, GRCh38: NC_000001.11:g.(?_147031738)_(149087283_?)dup, NCBI36: NC_000001.9:g.(?_144969915)_(146285918_?)dup | copy number gain | not provided | See cases | Likely pathogenic | ClinVar | RCV000142150.4, VCV000153963.2 | 3 |
| nssv15139671 | GRCh37: NC_000001.10:g.(?_146503291)_(147819815_?)dup, GRCh38: NC_000001.11:g.(?_147031738)_(149087283_?)dup, NCBI36: NC_000001.9:g.(?_144969915)_(146286439_?)dup | copy number gain | not provided | See cases | Likely pathogenic | ClinVar | RCV000143769.5, VCV000155702.2 | 3 |