nsv3898660
- 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:4,030,150
- Description:GRCh37/hg19 13q14.2-14.3(chr13:47312129-51342279)x1 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: 10327 SVs from 110 studies. See in: genome view
Overlapping variant regions from other studies: 10328 SVs from 110 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3898660 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 46,737,994 | 50,768,143 |
| nsv3898660 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 47,312,129 | 51,342,279 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15143149 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000511479.2, VCV000443381.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15143149 | Remapped | Perfect | NC_000013.11:g.(?_ 46737994)_(5076814 3_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 46,737,994 | 50,768,143 |
| nssv15143149 | Submitted genomic | NC_000013.10:g.(?_ 47312129)_(5134227 9_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 47,312,129 | 51,342,279 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15143149 | GRCh37: NC_000013.10:g.(?_47312129)_(51342279_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000511479.2, VCV000443381.2 | 1 |