nsv6291248
- 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:244,890
- Description:GRCh37/hg19 9q34.3(chr9:140357902-140602791)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: 1383 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 1383 SVs from 82 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6291248 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 137,463,450 | 137,708,339 |
| nsv6291248 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 140,357,902 | 140,602,791 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17956869 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001829161.1, VCV001341106.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17956869 | Remapped | Perfect | NC_000009.12:g.(?_ 137463450)_(137708 339_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 137,463,450 | 137,708,339 |
| nssv17956869 | Submitted genomic | NC_000009.11:g.(?_ 140357902)_(140602 791_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 140,357,902 | 140,602,791 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17956869 | GRCh37: NC_000009.11:g.(?_140357902)_(140602791_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001829161.1, VCV001341106.1 | 3 |