nsv4729386
- 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:327,571
- Description:GRCh37/hg19 13q14.2(chr13:50179353-50506923)x3 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: 1206 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 1206 SVs from 76 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4729386 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 49,605,217 | 49,932,787 |
nsv4729386 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 50,179,353 | 50,506,923 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv16254879 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001258547.1, VCV000979371.1 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16254879 | Remapped | Perfect | NC_000013.11:g.(?_ 49605217)_(4993278 7_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 49,605,217 | 49,932,787 |
nssv16254879 | Submitted genomic | NC_000013.10:g.(?_ 50179353)_(5050692 3_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 50,179,353 | 50,506,923 |
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 |
---|---|---|---|---|---|---|---|---|
nssv16254879 | GRCh37: NC_000013.10:g.(?_50179353)_(50506923_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV001258547.1, VCV000979371.1 | 3 |