nsv6313580
- 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:21,319,117
- Description:GRCh37/hg19 5q15-22.3(chr5:93650000-114969108) AND not specified
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 54696 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 54701 SVs from 132 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6313580 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 94,314,295 | 115,633,411 |
| nsv6313580 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 93,650,000 | 114,969,108 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17970039 | copy number loss | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002053511.3, VCV001527179.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17970039 | Remapped | Perfect | NC_000005.10:g.(?_ 94314295)_(1156334 11_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 94,314,295 | 115,633,411 |
| nssv17970039 | Submitted genomic | NC_000005.9:g.(?_9 3650000)_(11496910 8_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 93,650,000 | 114,969,108 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17970039 | GRCh37: NC_000005.9:g.(?_93650000)_(114969108_?)del | copy number loss | germline | not specified | Pathogenic | ClinVar | RCV002053511.3, VCV001527179.3 |