nsv3911924
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1,348,331
- Description:
See descriptions for individual calls in download files
- ClinVar: RCV000134722.5
- ClinVar: RCV000142474.4
- ClinVar: VCV000145327.2
- ClinVar: VCV000154407.2
- dbVar: nssv1601363
- dbVar: nssv1601426
- dbVar: nssv1601513
- dbVar: nssv1601652
- dbVar: nssv1601664
- dbVar: nssv1601685
- dbVar: nssv1601948
- dbVar: nssv1602066
- dbVar: nssv1602174
- dbVar: nssv1602301
- dbVar: nssv1602320
- dbVar: nssv1602411
- dbVar: nssv1602452
- dbVar: nssv1602579
- dbVar: nssv1602871
- dbVar: nssv1602939
- dbVar: nssv1603019
- dbVar: nssv1603366
- dbVar: nssv1603481
- dbVar: nssv1603662
- dbVar: nssv1603670
- dbVar: nssv1603843
- dbVar: nssv1603909
- dbVar: nssv1604046
- dbVar: nssv1604310
- dbVar: nssv1604481
- dbVar: nssv1604582
- dbVar: nssv1604737
- dbVar: nssv1604838
- dbVar: nssv1604859
- dbVar: nssv583818
- dbVar: nssv584000
- dbVar: nssv584063
- dbVar: nssv584082
- dbVar: nssv584113
- dbVar: nssv584122
- dbVar: nssv584160
- dbVar: nssv584226
- dbVar: nssv584258
- dbVar: nssv584277
- dbVar: nssv706635
- dbVar: nssv706839
- dbVar: nssv706877
- dbVar: nssv706898
- dbVar: nssv707084
- dbVar: nsv497803
- 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: 3293 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 3297 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 1338 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 |
|---|---|---|---|---|---|---|---|
| nsv3911924 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 69,942,862 | 71,291,192 |
| nsv3911924 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 69,238,689 | 70,587,019 |
| nsv3911924 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 69,274,445 | 70,622,775 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132758 | copy number loss | Multiple | Multiple | See cases | Benign/Likely benign | ClinVar | RCV000134722.5, VCV000145327.2 | 1 |
| nssv15138995 | copy number gain | Multiple | Multiple | See cases | Benign | ClinVar | RCV000142474.4, VCV000154407.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132758 | Submitted genomic | NC_000005.10:g.(?_ 69942862)_(7129119 2_?)del | GRCh38 (hg38) | NC_000005.10 | Chr5 | 69,942,862 | 71,291,192 |
| nssv15138995 | Submitted genomic | NC_000005.10:g.(?_ 69942862)_(7129119 2_?)dup | GRCh38 (hg38) | NC_000005.10 | Chr5 | 69,942,862 | 71,291,192 |
| nssv15132758 | Submitted genomic | NC_000005.9:g.(?_6 9238689)_(70587019 _?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 69,238,689 | 70,587,019 |
| nssv15138995 | Submitted genomic | NC_000005.9:g.(?_6 9238689)_(70587019 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 69,238,689 | 70,587,019 |
| nssv15132758 | Submitted genomic | NC_000005.8:g.(?_6 9274445)_(70622775 _?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 69,274,445 | 70,622,775 |
| nssv15138995 | Submitted genomic | NC_000005.8:g.(?_6 9274445)_(70622775 _?)dup | NCBI36 (hg18) | NC_000005.8 | Chr5 | 69,274,445 | 70,622,775 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132758 | GRCh37: NC_000005.9:g.(?_69238689)_(70587019_?)del, GRCh38: NC_000005.10:g.(?_69942862)_(71291192_?)del, NCBI36: NC_000005.8:g.(?_69274445)_(70622775_?)del | copy number loss | not provided | See cases | Benign/Likely benign | ClinVar | RCV000134722.5, VCV000145327.2 | 1 |
| nssv15138995 | GRCh37: NC_000005.9:g.(?_69238689)_(70587019_?)dup, GRCh38: NC_000005.10:g.(?_69942862)_(71291192_?)dup, NCBI36: NC_000005.8:g.(?_69274445)_(70622775_?)dup | copy number gain | not provided | See cases | Benign | ClinVar | RCV000142474.4, VCV000154407.2 | 3 |