nsv3917337
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:37,472,107
- Description:GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 117285 SVs from 145 studies. See in: genome view
Overlapping variant regions from other studies: 117039 SVs from 145 studies. See in: genome view
Overlapping variant regions from other studies: 31100 SVs from 40 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3917337 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 121,863,759 | 159,335,865 |
| nsv3917337 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 121,503,813 | 159,128,555 |
| nsv3917337 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 121,291,049 | 158,821,316 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148872 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000138847.5, VCV000149905.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148872 | Submitted genomic | NC_000007.14:g.(?_ 121863759)_(159335 865_?)dup | GRCh38 (hg38) | NC_000007.14 | Chr7 | 121,863,759 | 159,335,865 |
| nssv15148872 | Submitted genomic | NC_000007.13:g.(?_ 121503813)_(159128 555_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 121,503,813 | 159,128,555 |
| nssv15148872 | Submitted genomic | NC_000007.12:g.(?_ 121291049)_(158821 316_?)dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 121,291,049 | 158,821,316 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148872 | GRCh37: NC_000007.13:g.(?_121503813)_(159128555_?)dup, GRCh38: NC_000007.14:g.(?_121863759)_(159335865_?)dup, NCBI36: NC_000007.12:g.(?_121291049)_(158821316_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000138847.5, VCV000149905.2 | 3 |