nsv3879307
- 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:8,591,972
- Description:GRCh37/hg19 5q34-35.1(chr5:164207156-172799124) 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: 20508 SVs from 115 studies. See in: genome view
Overlapping variant regions from other studies: 20508 SVs from 115 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3879307 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 164,780,150 | 173,372,121 |
| nsv3879307 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 164,207,156 | 172,799,124 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17970065 | copy number loss | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002053537.3, VCV001527205.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17970065 | Remapped | Perfect | NC_000005.10:g.(?_ 164780150)_(173372 121_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 164,780,150 | 173,372,121 |
| nssv17970065 | Submitted genomic | NC_000005.9:g.(?_1 64207156)_(1727991 24_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 164,207,156 | 172,799,124 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17970065 | GRCh37: NC_000005.9:g.(?_164207156)_(172799124_?)del | copy number loss | germline | not specified | Pathogenic | ClinVar | RCV002053537.3, VCV001527205.3 |