nsv6636318
- 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:5,449,583
- Description:GRCh37/hg19 4q32.1-32.3(chr4:161461677-166911259)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: 18099 SVs from 126 studies. See in: genome view
Overlapping variant regions from other studies: 18099 SVs from 126 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6636318 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 160,540,525 | 165,990,107 |
nsv6636318 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 161,461,677 | 166,911,259 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv18329775 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002473507.1, VCV001808190.1 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18329775 | Remapped | Perfect | NC_000004.12:g.(?_ 160540525)_(165990 107_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 160,540,525 | 165,990,107 |
nssv18329775 | Submitted genomic | NC_000004.11:g.(?_ 161461677)_(166911 259_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 161,461,677 | 166,911,259 |
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 |
---|---|---|---|---|---|---|---|---|
nssv18329775 | GRCh37: NC_000004.11:g.(?_161461677)_(166911259_?)del | copy number loss | unknown | not provided | Uncertain significance | ClinVar | RCV002473507.1, VCV001808190.1 | 1 |