nsv6313851
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:21,965,807
- Description:GRCh37/hg19 7q22.3-32.1(chr7:106984287-128949489) AND not specified
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 54145 SVs from 137 studies. See in: genome view
Overlapping variant regions from other studies: 54145 SVs from 137 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6313851 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 107,343,842 | 129,309,648 |
| nsv6313851 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 106,984,287 | 128,949,489 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17970243 | copy number gain | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002053715.3, VCV001527383.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17970243 | Remapped | Good | NC_000007.14:g.(?_ 107343842)_(129309 648_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 107,343,842 | 129,309,648 |
| nssv17970243 | Submitted genomic | NC_000007.13:g.(?_ 106984287)_(128949 489_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 106,984,287 | 128,949,489 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17970243 | GRCh37: NC_000007.13:g.(?_106984287)_(128949489_?)dup | copy number gain | germline | not specified | Pathogenic | ClinVar | RCV002053715.3, VCV001527383.3 |