nsv4673928
- 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:13,973,893
- Description:GRCh37/hg19 Yp11.32-q11.221(chrY:1-16095773)x2 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: 9564 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 9574 SVs from 70 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4673928 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000024.10 | ChrY | 10,001 | 13,983,893 |
| nsv4673928 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000024.9 | ChrY | 1 | 16,095,773 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207602 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001007376.1, VCV000816422.1 | 2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207602 | Remapped | Pass | NC_000024.10:g.(?_ 10001)_(13983893_? )dup | GRCh38.p12 | First Pass | NC_000024.10 | ChrY | 10,001 | 13,983,893 |
| nssv16207602 | Submitted genomic | NC_000024.9:g.(?_1 )_(16095773_?)dup | GRCh37 (hg19) | NC_000024.9 | ChrY | 1 | 16,095,773 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16207602 | GRCh37: NC_000024.9:g.(?_1)_(16095773_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV001007376.1, VCV000816422.1 | 2 |