nsv3909091
- 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:103,405
- Description:GRCh37/hg19 16p13.3(chr16:6291018-6394422)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 404 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 404 SVs from 59 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3909091 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 6,241,017 | 6,344,421 |
| nsv3909091 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 6,291,018 | 6,394,422 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15141074 | copy number loss | Multiple | Multiple | See cases | conflicting data from submitters | ClinVar | RCV000510253.2, VCV000443471.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15141074 | Remapped | Perfect | NC_000016.10:g.(?_ 6241017)_(6344421_ ?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 6,241,017 | 6,344,421 |
| nssv15141074 | Submitted genomic | NC_000016.9:g.(?_6 291018)_(6394422_? )del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 6,291,018 | 6,394,422 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15141074 | GRCh37: NC_000016.9:g.(?_6291018)_(6394422_?)del | copy number loss | see ClinVar for details | See cases | conflicting data from submitters | ClinVar | RCV000510253.2, VCV000443471.2 | 1 |