nsv3920039
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:59,211,821
- Description:GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)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: 155142 SVs from 145 studies. See in: genome view
Overlapping variant regions from other studies: 155206 SVs from 145 studies. See in: genome view
Overlapping variant regions from other studies: 42499 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 |
|---|---|---|---|---|---|---|---|
| nsv3920039 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000013.11 | Chr13 | 31,363,472 | 90,575,292 |
| nsv3920039 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 31,937,609 | 91,227,546 |
| nsv3920039 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000013.9 | Chr13 | 30,835,609 | 90,025,547 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161263 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000050293.8, VCV000033174.2 | 3 |
| nssv15161581 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000148244.3, VCV000161028.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161263 | Submitted genomic | NC_000013.11:g.(?_ 31363472)_(9057529 2_?)dup | GRCh38 (hg38) | NC_000013.11 | Chr13 | 31,363,472 | 90,575,292 |
| nssv15161581 | Submitted genomic | NC_000013.11:g.(?_ 31363472)_(9057529 2_?)dup | GRCh38 (hg38) | NC_000013.11 | Chr13 | 31,363,472 | 90,575,292 |
| nssv15161263 | Submitted genomic | NC_000013.10:g.(?_ 31937609)_(9122754 6_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 31,937,609 | 91,227,546 |
| nssv15161581 | Submitted genomic | NC_000013.10:g.(?_ 31937609)_(9122754 6_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 31,937,609 | 91,227,546 |
| nssv15161263 | Submitted genomic | NC_000013.9:g.(?_3 0835609)_(90025547 _?)dup | NCBI36 (hg18) | NC_000013.9 | Chr13 | 30,835,609 | 90,025,547 |
| nssv15161581 | Submitted genomic | NC_000013.9:g.(?_3 0835609)_(90025547 _?)dup | NCBI36 (hg18) | NC_000013.9 | Chr13 | 30,835,609 | 90,025,547 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161263 | GRCh37: NC_000013.10:g.(?_31937609)_(91227546_?)dup, GRCh38: NC_000013.11:g.(?_31363472)_(90575292_?)dup, NCBI36: NC_000013.9:g.(?_30835609)_(90025547_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000050293.8, VCV000033174.2 | 3 |
| nssv15161581 | GRCh37: NC_000013.10:g.(?_31937609)_(91227546_?)dup, GRCh38: NC_000013.11:g.(?_31363472)_(90575292_?)dup, NCBI36: NC_000013.9:g.(?_30835609)_(90025547_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000148244.3, VCV000161028.1 | 3 |