nsv6315229
- 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:57,207,415
- Description:GRCh37/hg19 Yp11.32-q12(chrY:1-59373566) AND Global developmental delay
- Publication(s):Manickam et al. 2021, Michelson et al. 2011
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 17679 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 17702 SVs from 75 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6315229 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000024.10 | ChrY | 10,001 | 57,217,415 |
| nsv6315229 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000024.9 | ChrY | 1 | 59,373,566 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17976872 | copy number gain | Multiple | Multiple | Global developmental delay; Global developmental delay | Pathogenic | ClinVar | RCV002280747.1, VCV001703659.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17976872 | Remapped | Good | NC_000024.10:g.(?_ 10001)_(57217415_? )dup | GRCh38.p12 | First Pass | NC_000024.10 | ChrY | 10,001 | 57,217,415 |
| nssv17976872 | Submitted genomic | NC_000024.9:g.(?_1 )_(59373566_?)dup | GRCh37 (hg19) | NC_000024.9 | ChrY | 1 | 59,373,566 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17976872 | GRCh37: NC_000024.9:g.(?_1)_(59373566_?)dup | copy number gain | see ClinVar for details | Global developmental delay; Global developmental delay | Pathogenic | ClinVar | RCV002280747.1, VCV001703659.1 |