nsv4457763
- 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:157,536
- Description:GRCh37/hg19 18p11.32(chr18:2481916-2639451)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: 712 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 712 SVs from 67 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4457763 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 2,481,917 | 2,639,452 |
nsv4457763 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 2,481,916 | 2,639,451 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15772080 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000846520.2, VCV000685812.2 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15772080 | Remapped | Perfect | NC_000018.10:g.(?_ 2481917)_(2639452_ ?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 2,481,917 | 2,639,452 |
nssv15772080 | Submitted genomic | NC_000018.9:g.(?_2 481916)_(2639451_? )del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 2,481,916 | 2,639,451 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15772080 | GRCh37: NC_000018.9:g.(?_2481916)_(2639451_?)del | copy number loss | unknown | not provided | Uncertain significance | ClinVar | RCV000846520.2, VCV000685812.2 | 1 |