nsv6637111
- 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:15,548,913
- Description:GRCh37/hg19 5q22.2-23.3(chr5:112557391-128106299)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: 40365 SVs from 128 studies. See in: genome view
Overlapping variant regions from other studies: 40365 SVs from 128 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6637111 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 113,221,694 | 128,770,606 |
nsv6637111 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 112,557,391 | 128,106,299 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv18329255 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV002475732.1, VCV001809359.1 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18329255 | Remapped | Perfect | NC_000005.10:g.(?_ 113221694)_(128770 606_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 113,221,694 | 128,770,606 |
nssv18329255 | Submitted genomic | NC_000005.9:g.(?_1 12557391)_(1281062 99_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 112,557,391 | 128,106,299 |
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 |
---|---|---|---|---|---|---|---|---|
nssv18329255 | GRCh37: NC_000005.9:g.(?_112557391)_(128106299_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV002475732.1, VCV001809359.1 | 1 |