nsv4453932
- 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:208,955
- Description:GRCh37/hg19 1p36.22(chr1:11846836-12055790)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: 767 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 767 SVs from 65 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4453932 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 11,786,779 | 11,995,733 |
nsv4453932 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 11,846,836 | 12,055,790 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15775454 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000847324.2, VCV000686616.2 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15775454 | Remapped | Perfect | NC_000001.11:g.(?_ 11786779)_(1199573 3_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 11,786,779 | 11,995,733 |
nssv15775454 | Submitted genomic | NC_000001.10:g.(?_ 11846836)_(1205579 0_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 11,846,836 | 12,055,790 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15775454 | GRCh37: NC_000001.10:g.(?_11846836)_(12055790_?)del | copy number loss | unknown | not provided | Uncertain significance | ClinVar | RCV000847324.2, VCV000686616.2 | 1 |