nsv6313845
- 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:651,405
- Description:GRCh37/hg19 4q13.2(chr4:68272006-68923410) 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: 1829 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 1829 SVs from 82 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6313845 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 67,406,288 | 68,057,692 |
| nsv6313845 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 68,272,006 | 68,923,410 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969952 | copy number gain | Multiple | Multiple | not specified | Uncertain significance | ClinVar | RCV002053424.3, VCV001527092.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969952 | Remapped | Perfect | NC_000004.12:g.(?_ 67406288)_(6805769 2_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 67,406,288 | 68,057,692 |
| nssv17969952 | Submitted genomic | NC_000004.11:g.(?_ 68272006)_(6892341 0_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 68,272,006 | 68,923,410 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969952 | GRCh37: NC_000004.11:g.(?_68272006)_(68923410_?)dup | copy number gain | germline | not specified | Uncertain significance | ClinVar | RCV002053424.3, VCV001527092.3 |