nsv4674460
- 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:288,506
- Description:GRCh37/hg19 Yq11.223(chrY:23553019-23841524)x0 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: 379 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 379 SVs from 40 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4674460 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000024.10 | ChrY | 21,391,133 | 21,679,638 |
nsv4674460 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000024.9 | ChrY | 23,553,019 | 23,841,524 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv16209031 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001007398.1, VCV000816444.1 | 0 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16209031 | Remapped | Perfect | NC_000024.10:g.(?_ 21391133)_(2167963 8_?)del | GRCh38.p12 | First Pass | NC_000024.10 | ChrY | 21,391,133 | 21,679,638 |
nssv16209031 | Submitted genomic | NC_000024.9:g.(?_2 3553019)_(23841524 _?)del | GRCh37 (hg19) | NC_000024.9 | ChrY | 23,553,019 | 23,841,524 |
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 |
---|---|---|---|---|---|---|---|---|
nssv16209031 | GRCh37: NC_000024.9:g.(?_23553019)_(23841524_?)del | copy number loss | germline | not provided | Uncertain significance | ClinVar | RCV001007398.1, VCV000816444.1 | 0 |