nsv6637356
- 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:228,709
- Description:GRCh37/hg19 13q32.1(chr13:95925875-96154583)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: 1020 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 1020 SVs from 70 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6637356 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 95,273,621 | 95,502,329 |
| nsv6637356 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 95,925,875 | 96,154,583 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18329516 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002472450.1, VCV001807644.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18329516 | Remapped | Perfect | NC_000013.11:g.(?_ 95273621)_(9550232 9_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 95,273,621 | 95,502,329 |
| nssv18329516 | Submitted genomic | NC_000013.10:g.(?_ 95925875)_(9615458 3_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 95,925,875 | 96,154,583 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18329516 | GRCh37: NC_000013.10:g.(?_95925875)_(96154583_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV002472450.1, VCV001807644.1 | 3 |