nsv4674153
- 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:3,779,466
- Description:GRCh37/hg19 Yq11.223-11.23(chrY:24644460-28423925)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: 1237 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 1237 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4674153 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000024.10 | ChrY | 22,498,313 | 26,277,778 |
nsv4674153 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000024.9 | ChrY | 24,644,460 | 28,423,925 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv16207618 | copy number gain | Multiple | Multiple | not provided | Likely benign | ClinVar | RCV001007399.1, VCV000816445.1 | 2 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16207618 | Remapped | Perfect | NC_000024.10:g.(?_ 22498313)_(2627777 8_?)dup | GRCh38.p12 | First Pass | NC_000024.10 | ChrY | 22,498,313 | 26,277,778 |
nssv16207618 | Submitted genomic | NC_000024.9:g.(?_2 4644460)_(28423925 _?)dup | GRCh37 (hg19) | NC_000024.9 | ChrY | 24,644,460 | 28,423,925 |
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 |
---|---|---|---|---|---|---|---|---|
nssv16207618 | GRCh37: NC_000024.9:g.(?_24644460)_(28423925_?)dup | copy number gain | germline | not provided | Likely benign | ClinVar | RCV001007399.1, VCV000816445.1 | 2 |