nsv4674454
- 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:3,567,791
- Description:GRCh37/hg19 1p35.2-35.1(chr1:30819875-34380419)x3 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: 9446 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 9428 SVs from 104 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4674454 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 30,347,028 | 33,914,818 |
| nsv4674454 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 30,819,875 | 34,380,419 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16206477 | copy number gain | Multiple | Multiple | not provided | Likely pathogenic | ClinVar | RCV001005079.1, VCV000814067.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16206477 | Remapped | Good | NC_000001.11:g.(?_ 30347028)_(3391481 8_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 30,347,028 | 33,914,818 |
| nssv16206477 | Submitted genomic | NC_000001.10:g.(?_ 30819875)_(3438041 9_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 30,819,875 | 34,380,419 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16206477 | GRCh37: NC_000001.10:g.(?_30819875)_(34380419_?)dup | copy number gain | germline | not provided | Likely pathogenic | ClinVar | RCV001005079.1, VCV000814067.1 | 3 |