nsv3924676
- 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:95,884,246
- Description:GRCh38/hg38 13q11-34(chr13:18456040-114340285)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: 265332 SVs from 151 studies. See in: genome view
Overlapping variant regions from other studies: 265261 SVs from 151 studies. See in: genome view
Overlapping variant regions from other studies: 71954 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 |
|---|---|---|---|---|---|---|---|
| nsv3924676 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000013.11 | Chr13 | 18,456,040 | 114,340,285 |
| nsv3924676 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 19,030,180 | 115,105,760 |
| nsv3924676 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000013.9 | Chr13 | 17,928,180 | 114,123,862 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161090 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000140004.7, VCV000151282.3 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161090 | Submitted genomic | NC_000013.11:g.(?_ 18456040)_(1143402 85_?)dup | GRCh38 (hg38) | NC_000013.11 | Chr13 | 18,456,040 | 114,340,285 |
| nssv15161090 | Submitted genomic | NC_000013.10:g.(?_ 19030180)_(1151057 60_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 19,030,180 | 115,105,760 |
| nssv15161090 | Submitted genomic | NC_000013.9:g.(?_1 7928180)_(11412386 2_?)dup | NCBI36 (hg18) | NC_000013.9 | Chr13 | 17,928,180 | 114,123,862 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161090 | GRCh37: NC_000013.10:g.(?_19030180)_(115105760_?)dup, GRCh38: NC_000013.11:g.(?_18456040)_(114340285_?)dup, NCBI36: NC_000013.9:g.(?_17928180)_(114123862_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000140004.7, VCV000151282.3 | 3 |