nsv6290935
- 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:553,112
- Description:GRCh37/hg19 6p12.3(chr6:49459881-50012992)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: 1380 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 1380 SVs from 76 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6290935 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 49,492,168 | 50,045,279 |
nsv6290935 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 49,459,881 | 50,012,992 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv17957275 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001836484.1, VCV001340034.1 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17957275 | Remapped | Perfect | NC_000006.12:g.(?_ 49492168)_(5004527 9_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 49,492,168 | 50,045,279 |
nssv17957275 | Submitted genomic | NC_000006.11:g.(?_ 49459881)_(5001299 2_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 49,459,881 | 50,012,992 |
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 |
---|---|---|---|---|---|---|---|---|
nssv17957275 | GRCh37: NC_000006.11:g.(?_49459881)_(50012992_?)del | copy number loss | germline | not provided | Uncertain significance | ClinVar | RCV001836484.1, VCV001340034.1 | 1 |