nsv4348640
- 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:19,516,650
- Description:GRCh37/hg19 Yp11.31-q11.223(chrY:2650278-24445033) AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 14062 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 14113 SVs from 74 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4348640 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000024.10 | ChrY | 2,782,237 | 22,298,886 |
| nsv4348640 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000024.9 | ChrY | 2,650,278 | 24,445,033 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15605853 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000767654.1, VCV000625646.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15605853 | Remapped | Pass | NC_000024.10:g.(?_ 2782237)_(22298886 _?)dup | GRCh38.p12 | First Pass | NC_000024.10 | ChrY | 2,782,237 | 22,298,886 |
| nssv15605853 | Submitted genomic | NC_000024.9:g.(?_2 650278)_(24445033_ ?)dup | GRCh37 (hg19) | NC_000024.9 | ChrY | 2,650,278 | 24,445,033 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15605853 | GRCh37: NC_000024.9:g.(?_2650278)_(24445033_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV000767654.1, VCV000625646.1 |