nsv3886466
- 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:355,435
- Description:GRCh37/hg19 5q12.3(chr5:63263538-63618972)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: 514 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 514 SVs from 54 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3886466 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 63,967,711 | 64,323,145 |
nsv3886466 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 63,263,538 | 63,618,972 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15151413 | copy number loss | Multiple | Multiple | not provided | Likely benign | ClinVar | RCV000682563.1, VCV000563074.1 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15151413 | Remapped | Perfect | NC_000005.10:g.(?_ 63967711)_(6432314 5_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 63,967,711 | 64,323,145 |
nssv15151413 | Submitted genomic | NC_000005.9:g.(?_6 3263538)_(63618972 _?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 63,263,538 | 63,618,972 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15151413 | GRCh37: NC_000005.9:g.(?_63263538)_(63618972_?)del | copy number loss | germline | not provided | Likely benign | ClinVar | RCV000682563.1, VCV000563074.1 | 1 |