nsv3915506
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:37,189,472
- Description:GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)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: 113898 SVs from 145 studies. See in: genome view
Overlapping variant regions from other studies: 113832 SVs from 145 studies. See in: genome view
Overlapping variant regions from other studies: 29057 SVs from 40 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3915506 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 52,899,183 | 90,088,654 |
| nsv3915506 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 52,933,095 | 90,155,062 |
| nsv3915506 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 51,490,596 | 88,682,563 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15149003 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000143425.6, VCV000155358.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15149003 | Submitted genomic | NC_000016.10:g.(?_ 52899183)_(9008865 4_?)dup | GRCh38 (hg38) | NC_000016.10 | Chr16 | 52,899,183 | 90,088,654 |
| nssv15149003 | Submitted genomic | NC_000016.9:g.(?_5 2933095)_(90155062 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 52,933,095 | 90,155,062 |
| nssv15149003 | Submitted genomic | NC_000016.8:g.(?_5 1490596)_(88682563 _?)dup | NCBI36 (hg18) | NC_000016.8 | Chr16 | 51,490,596 | 88,682,563 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15149003 | GRCh37: NC_000016.9:g.(?_52933095)_(90155062_?)dup, GRCh38: NC_000016.10:g.(?_52899183)_(90088654_?)dup, NCBI36: NC_000016.8:g.(?_51490596)_(88682563_?)dup | copy number gain | de novo | See cases | Pathogenic | ClinVar | RCV000143425.6, VCV000155358.2 | 3 |