nsv6313499
- 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:2,869,544
- Description:GRCh37/hg19 6q24.2-24.3(chr6:145449900-148319443) AND not specified
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 5676 SVs from 105 studies. See in: genome view
Overlapping variant regions from other studies: 5676 SVs from 105 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6313499 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 145,128,764 | 147,998,307 |
| nsv6313499 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 145,449,900 | 148,319,443 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17970162 | copy number gain | Multiple | Multiple | not specified | Uncertain significance | ClinVar | RCV002053634.3, VCV001527302.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17970162 | Remapped | Perfect | NC_000006.12:g.(?_ 145128764)_(147998 307_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 145,128,764 | 147,998,307 |
| nssv17970162 | Submitted genomic | NC_000006.11:g.(?_ 145449900)_(148319 443_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 145,449,900 | 148,319,443 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17970162 | GRCh37: NC_000006.11:g.(?_145449900)_(148319443_?)dup | copy number gain | germline | not specified | Uncertain significance | ClinVar | RCV002053634.3, VCV001527302.3 |