nsv3886770
- 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:326,634
- Description:GRCh37/hg19 Yq11.223(chrY:22222390-22549023)x1 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: 1686 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 1687 SVs from 38 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3886770 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000024.10 | ChrY | 20,060,504 | 20,387,137 |
| nsv3886770 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000024.9 | ChrY | 22,222,390 | 22,549,023 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15175337 | copy number loss | Multiple | Multiple | not provided | Benign | ClinVar | RCV000754050.2, VCV000617414.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15175337 | Remapped | Perfect | NC_000024.10:g.(?_ 20060504)_(2038713 7_?)del | GRCh38.p12 | First Pass | NC_000024.10 | ChrY | 20,060,504 | 20,387,137 |
| nssv15175337 | Submitted genomic | NC_000024.9:g.(?_2 2222390)_(22549023 _?)del | GRCh37 (hg19) | NC_000024.9 | ChrY | 22,222,390 | 22,549,023 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15175337 | GRCh37: NC_000024.9:g.(?_22222390)_(22549023_?)del | copy number loss | unknown | not provided | Benign | ClinVar | RCV000754050.2, VCV000617414.2 | 1 |