nsv4350067
- 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:51,249,963
- Description:GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367) 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: 151302 SVs from 146 studies. See in: genome view
Overlapping variant regions from other studies: 150942 SVs from 146 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4350067 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 29,487,688 | 80,737,650 |
| nsv4350067 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 29,455,465 | 81,447,367 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15606075 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000767714.1, VCV000625706.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15606075 | Remapped | Good | NC_000006.12:g.(?_ 29487688)_(8073765 0_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 29,487,688 | 80,737,650 |
| nssv15606075 | Submitted genomic | NC_000006.11:g.(?_ 29455465)_(8144736 7_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 29,455,465 | 81,447,367 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15606075 | GRCh37: NC_000006.11:g.(?_29455465)_(81447367_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV000767714.1, VCV000625706.1 |