nsv3917270
- 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:54,225,559
- Description:GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)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: 141509 SVs from 143 studies. See in: genome view
Overlapping variant regions from other studies: 141573 SVs from 143 studies. See in: genome view
Overlapping variant regions from other studies: 38880 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3917270 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000013.11 | Chr13 | 32,531,486 | 86,757,044 |
| nsv3917270 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 33,105,623 | 87,409,299 |
| nsv3917270 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000013.9 | Chr13 | 32,003,623 | 86,207,300 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161082 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000138339.6, VCV000149289.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161082 | Submitted genomic | NC_000013.11:g.(?_ 32531486)_(8675704 4_?)dup | GRCh38 (hg38) | NC_000013.11 | Chr13 | 32,531,486 | 86,757,044 |
| nssv15161082 | Submitted genomic | NC_000013.10:g.(?_ 33105623)_(8740929 9_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 33,105,623 | 87,409,299 |
| nssv15161082 | Submitted genomic | NC_000013.9:g.(?_3 2003623)_(86207300 _?)dup | NCBI36 (hg18) | NC_000013.9 | Chr13 | 32,003,623 | 86,207,300 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161082 | GRCh37: NC_000013.10:g.(?_33105623)_(87409299_?)dup, GRCh38: NC_000013.11:g.(?_32531486)_(86757044_?)dup, NCBI36: NC_000013.9:g.(?_32003623)_(86207300_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000138339.6, VCV000149289.2 | 3 |