nsv3877350
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:54,103,725
- Description:GRCh37/hg19 Yp11.31-q12(chrY:2650559-59032389)x2 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 16344 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 16403 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 2703 SVs from 12 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3877350 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000024.10 | ChrY | 2,782,518 | 56,886,242 |
| nsv3877350 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000024.9 | ChrY | 2,650,559 | 59,032,389 | ||
| nsv3877350 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000024.8 | ChrY | 2,710,559 | 57,441,777 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15136095 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000138422.4, VCV000149400.2 | 2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15136095 | Remapped | Good | NC_000024.10:g.(?_ 2782518)_(56886242 _?)dup | GRCh38.p12 | First Pass | NC_000024.10 | ChrY | 2,782,518 | 56,886,242 |
| nssv15136095 | Submitted genomic | NC_000024.9:g.(?_2 650559)_(59032389_ ?)dup | GRCh37 (hg19) | NC_000024.9 | ChrY | 2,650,559 | 59,032,389 | ||
| nssv15136095 | Submitted genomic | NC_000024.8:g.(?_2 710559)_(57441777_ ?)dup | NCBI36 (hg18) | NC_000024.8 | ChrY | 2,710,559 | 57,441,777 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15136095 | GRCh37: NC_000024.9:g.(?_2650559)_(59032389_?)dup, NCBI36: NC_000024.8:g.(?_2710559)_(57441777_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000138422.4, VCV000149400.2 | 2 |