nsv6637121
- 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:621,049
- Description:GRCh37/hg19 6q13(chr6:72886775-73507843)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: 1278 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 1286 SVs from 75 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6637121 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 72,177,072 | 72,798,120 |
| nsv6637121 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 72,886,775 | 73,507,843 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18329211 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002475688.1, VCV001809315.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18329211 | Remapped | Good | NC_000006.12:g.(?_ 72177072)_(7279812 0_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 72,177,072 | 72,798,120 |
| nssv18329211 | Submitted genomic | NC_000006.11:g.(?_ 72886775)_(7350784 3_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 72,886,775 | 73,507,843 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18329211 | GRCh37: NC_000006.11:g.(?_72886775)_(73507843_?)del | copy number loss | unknown | not provided | Uncertain significance | ClinVar | RCV002475688.1, VCV001809315.1 | 1 |