nsv6636443
- 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:177,805
- Description:GRCh37/hg19 8p21.2(chr8:23502588-23680392)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: 514 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 514 SVs from 48 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6636443 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 23,645,075 | 23,822,879 |
nsv6636443 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 23,502,588 | 23,680,392 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv18329462 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002472396.1, VCV001807590.1 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18329462 | Remapped | Perfect | NC_000008.11:g.(?_ 23645075)_(2382287 9_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 23,645,075 | 23,822,879 |
nssv18329462 | Submitted genomic | NC_000008.10:g.(?_ 23502588)_(2368039 2_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 23,502,588 | 23,680,392 |
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 |
---|---|---|---|---|---|---|---|---|
nssv18329462 | GRCh37: NC_000008.10:g.(?_23502588)_(23680392_?)del | copy number loss | unknown | not provided | Uncertain significance | ClinVar | RCV002472396.1, VCV001807590.1 | 1 |