nsv3922004
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:597,786
- Description:GRCh38/hg38 16p11.2(chr16:29581462-30179247)x3 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: 2075 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 2075 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 377 SVs from 24 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3922004 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 29,581,462 | 30,179,247 |
| nsv3922004 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 29,592,783 | 30,190,568 |
| nsv3922004 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 29,500,284 | 30,098,069 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15141013 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000487472.3, VCV000424857.3 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15141013 | Remapped | Perfect | NC_000016.10:g.(?_ 29581462)_(3017924 7_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 29,581,462 | 30,179,247 |
| nssv15141013 | Remapped | Perfect | NC_000016.9:g.(?_2 9592783)_(30190568 _?)dup | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 29,592,783 | 30,190,568 |
| nssv15141013 | Submitted genomic | NC_000016.8:g.(?_2 9500284)_(30098069 _?)dup | NCBI36 (hg18) | NC_000016.8 | Chr16 | 29,500,284 | 30,098,069 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15141013 | NCBI36: NC_000016.8:g.(?_29500284)_(30098069_?)dup | copy number gain | see ClinVar for details | See cases | Pathogenic | ClinVar | RCV000487472.3, VCV000424857.3 | 3 |