nsv6637972
- 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:1,264,305
- Description:GRCh37/hg19 16p13.3(chr16:85881-1350186)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: 10143 SVs from 117 studies. See in: genome view
Overlapping variant regions from other studies: 10145 SVs from 117 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6637972 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 35,881 | 1,300,185 |
| nsv6637972 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 85,881 | 1,350,186 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18330316 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV002474576.1, VCV001808731.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18330316 | Remapped | Perfect | NC_000016.10:g.(?_ 35881)_(1300185_?) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 35,881 | 1,300,185 |
| nssv18330316 | Submitted genomic | NC_000016.9:g.(?_8 5881)_(1350186_?)d el | GRCh37 (hg19) | NC_000016.9 | Chr16 | 85,881 | 1,350,186 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18330316 | GRCh37: NC_000016.9:g.(?_85881)_(1350186_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV002474576.1, VCV001808731.1 | 1 |