nsv4729520
- 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:6,759,288
- Description:GRCh37/hg19 13q12.12-12.3(chr13:23775339-30534624)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: 18823 SVs from 123 studies. See in: genome view
Overlapping variant regions from other studies: 18823 SVs from 123 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4729520 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 23,201,200 | 29,960,487 |
| nsv4729520 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 23,775,339 | 30,534,624 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16254873 | copy number gain | Multiple | Multiple | not provided | Likely pathogenic | ClinVar | RCV001258538.1, VCV000979362.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16254873 | Remapped | Perfect | NC_000013.11:g.(?_ 23201200)_(2996048 7_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 23,201,200 | 29,960,487 |
| nssv16254873 | Submitted genomic | NC_000013.10:g.(?_ 23775339)_(3053462 4_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 23,775,339 | 30,534,624 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16254873 | GRCh37: NC_000013.10:g.(?_23775339)_(30534624_?)dup | copy number gain | germline | not provided | Likely pathogenic | ClinVar | RCV001258538.1, VCV000979362.1 | 3 |