nsv3915484
- 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:372,718
- Description:GRCh38/hg38 13q12.11(chr13:19632400-20005117)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: 1883 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 1883 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 454 SVs from 25 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3915484 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000013.11 | Chr13 | 19,632,400 | 20,005,117 |
| nsv3915484 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 20,206,540 | 20,579,257 |
| nsv3915484 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000013.9 | Chr13 | 19,104,540 | 19,477,257 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15134880 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000136982.4, VCV000147859.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15134880 | Submitted genomic | NC_000013.11:g.(?_ 19632400)_(2000511 7_?)dup | GRCh38 (hg38) | NC_000013.11 | Chr13 | 19,632,400 | 20,005,117 |
| nssv15134880 | Submitted genomic | NC_000013.10:g.(?_ 20206540)_(2057925 7_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 20,206,540 | 20,579,257 |
| nssv15134880 | Submitted genomic | NC_000013.9:g.(?_1 9104540)_(19477257 _?)dup | NCBI36 (hg18) | NC_000013.9 | Chr13 | 19,104,540 | 19,477,257 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15134880 | GRCh37: NC_000013.10:g.(?_20206540)_(20579257_?)dup, GRCh38: NC_000013.11:g.(?_19632400)_(20005117_?)dup, NCBI36: NC_000013.9:g.(?_19104540)_(19477257_?)dup | copy number gain | tested-inconclusive | See cases | Uncertain significance | ClinVar | RCV000136982.4, VCV000147859.2 | 3 |