nsv3890088
- 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:1,532,194
- Description:GRCh37/hg19 16p13.3(chr16:61451-1593645)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: 11689 SVs from 118 studies. See in: genome view
Overlapping variant regions from other studies: 11691 SVs from 118 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3890088 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 11,451 | 1,543,644 |
| nsv3890088 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 61,451 | 1,593,645 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15173022 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000751445.2, VCV000614809.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15173022 | Remapped | Perfect | NC_000016.10:g.(?_ 11451)_(1543644_?) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 11,451 | 1,543,644 |
| nssv15173022 | Submitted genomic | NC_000016.9:g.(?_6 1451)_(1593645_?)d el | GRCh37 (hg19) | NC_000016.9 | Chr16 | 61,451 | 1,593,645 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15173022 | GRCh37: NC_000016.9:g.(?_61451)_(1593645_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV000751445.2, VCV000614809.2 | 1 |