nsv6290927
- 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:208,146
- Description:GRCh37/hg19 9q22.32(chr9:96839257-97047402)x1 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: 598 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 598 SVs from 56 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6290927 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 94,076,975 | 94,285,120 |
| nsv6290927 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 96,839,257 | 97,047,402 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17956732 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001827910.1, VCV001340660.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17956732 | Remapped | Perfect | NC_000009.12:g.(?_ 94076975)_(9428512 0_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 94,076,975 | 94,285,120 |
| nssv17956732 | Submitted genomic | NC_000009.11:g.(?_ 96839257)_(9704740 2_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 96,839,257 | 97,047,402 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17956732 | GRCh37: NC_000009.11:g.(?_96839257)_(97047402_?)del | copy number loss | germline | not provided | Uncertain significance | ClinVar | RCV001827910.1, VCV001340660.1 | 1 |