nsv6313645
- 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:120,323
- Description:GRCh37/hg19 7q11.22(chr7:69527664-69647986) 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: 419 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 419 SVs from 47 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6313645 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 70,062,678 | 70,183,000 |
| nsv6313645 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 69,527,664 | 69,647,986 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17970224 | copy number loss | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002053696.3, VCV001527364.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17970224 | Remapped | Perfect | NC_000007.14:g.(?_ 70062678)_(7018300 0_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 70,062,678 | 70,183,000 |
| nssv17970224 | Submitted genomic | NC_000007.13:g.(?_ 69527664)_(6964798 6_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 69,527,664 | 69,647,986 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17970224 | GRCh37: NC_000007.13:g.(?_69527664)_(69647986_?)del | copy number loss | germline | not specified | Pathogenic | ClinVar | RCV002053696.3, VCV001527364.3 |