nsv6636606
- 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:31,334,959
- Description:GRCh37/hg19 5p15.33-13.3(chr5:113577-31448527)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: 104275 SVs from 142 studies. See in: genome view
Overlapping variant regions from other studies: 104307 SVs from 142 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6636606 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 113,462 | 31,448,420 |
| nsv6636606 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 113,577 | 31,448,527 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18329189 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV002475666.1, VCV001809293.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18329189 | Remapped | Perfect | NC_000005.10:g.(?_ 113462)_(31448420_ ?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 113,462 | 31,448,420 |
| nssv18329189 | Submitted genomic | NC_000005.9:g.(?_1 13577)_(31448527_? )del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 113,577 | 31,448,527 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18329189 | GRCh37: NC_000005.9:g.(?_113577)_(31448527_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV002475666.1, VCV001809293.1 | 1 |