nsv3920749
- 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:94,465,485
- Description:GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)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: 260358 SVs from 151 studies. See in: genome view
Overlapping variant regions from other studies: 260273 SVs from 151 studies. See in: genome view
Overlapping variant regions from other studies: 70473 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 |
|---|---|---|---|---|---|---|---|
| nsv3920749 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000013.11 | Chr13 | 19,833,130 | 114,298,614 |
| nsv3920749 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 20,407,270 | 115,064,089 |
| nsv3920749 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000013.9 | Chr13 | 19,305,270 | 114,082,191 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161763 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000134104.6, VCV000144647.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161763 | Submitted genomic | NC_000013.11:g.(?_ 19833130)_(1142986 14_?)dup | GRCh38 (hg38) | NC_000013.11 | Chr13 | 19,833,130 | 114,298,614 |
| nssv15161763 | Submitted genomic | NC_000013.10:g.(?_ 20407270)_(1150640 89_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 20,407,270 | 115,064,089 |
| nssv15161763 | Submitted genomic | NC_000013.9:g.(?_1 9305270)_(11408219 1_?)dup | NCBI36 (hg18) | NC_000013.9 | Chr13 | 19,305,270 | 114,082,191 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161763 | GRCh37: NC_000013.10:g.(?_20407270)_(115064089_?)dup, GRCh38: NC_000013.11:g.(?_19833130)_(114298614_?)dup, NCBI36: NC_000013.9:g.(?_19305270)_(114082191_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000134104.6, VCV000144647.2 | 3 |