nsv3920070
- 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:23,877
- Description:
See descriptions for individual calls in download files
- ClinVar: RCV000141699.5
- ClinVar: RCV000143389.4
- ClinVar: VCV000153237.2
- ClinVar: VCV000155322.2
- dbVar: nssv13638555
- dbVar: nssv13638865
- dbVar: nssv13639551
- dbVar: nssv13656483
- dbVar: nssv3395266
- dbVar: nssv3395267
- dbVar: nssv3395274
- dbVar: nssv3395444
- dbVar: nssv3396789
- dbVar: nssv3397139
- dbVar: nsv995235
- 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: 215 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 215 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 65 SVs from 12 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3920070 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 80,627,421 | 80,651,297 |
| nsv3920070 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 80,256,737 | 80,280,613 |
| nsv3920070 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 80,094,673 | 80,118,549 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15138628 | copy number loss | Multiple | Multiple | See cases | Pathogenic/Likely pathogenic | ClinVar | RCV000141699.5, VCV000153237.2 | 0 |
| nssv15139272 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000143389.4, VCV000155322.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15138628 | Submitted genomic | NC_000007.14:g.(?_ 80627421)_(8065129 7_?)del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 80,627,421 | 80,651,297 |
| nssv15139272 | Submitted genomic | NC_000007.14:g.(?_ 80627421)_(8065129 7_?)del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 80,627,421 | 80,651,297 |
| nssv15138628 | Submitted genomic | NC_000007.13:g.(?_ 80256737)_(8028061 3_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 80,256,737 | 80,280,613 |
| nssv15139272 | Submitted genomic | NC_000007.13:g.(?_ 80256737)_(8028061 3_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 80,256,737 | 80,280,613 |
| nssv15139272 | Submitted genomic | NC_000007.12:g.(?_ 80094673)_(8011854 9_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 80,094,673 | 80,118,549 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15138628 | GRCh37: NC_000007.13:g.(?_80256737)_(80280613_?)del, GRCh38: NC_000007.14:g.(?_80627421)_(80651297_?)del | copy number loss | see ClinVar for details | See cases | Pathogenic/Likely pathogenic | ClinVar | RCV000141699.5, VCV000153237.2 | 0 |
| nssv15139272 | GRCh37: NC_000007.13:g.(?_80256737)_(80280613_?)del, GRCh38: NC_000007.14:g.(?_80627421)_(80651297_?)del, NCBI36: NC_000007.12:g.(?_80094673)_(80118549_?)del | copy number loss | biparental | See cases | Pathogenic | ClinVar | RCV000143389.4, VCV000155322.2 | 1 |