nsv4728419
- 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:12,820,954
- Description:Single allele 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: 43664 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 43509 SVs from 125 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4728419 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 101,523,450 | 114,344,403 |
| nsv4728419 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 102,175,801 | 115,169,858 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16255776 | deletion | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001260932.1, VCV000981484.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16255776 | Remapped | Good | NC_000013.11:g.101 523450_114344403de l | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 101,523,450 | 114,344,403 |
| nssv16255776 | Submitted genomic | NC_000013.10:g.102 175801_115169858de l | GRCh37 (hg19) | NC_000013.10 | Chr13 | 102,175,801 | 115,169,858 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16255776 | GRCh37: NC_000013.10:g.102175801_115169858del | deletion | germline | not provided | Pathogenic | ClinVar | RCV001260932.1, VCV000981484.1 |