nsv3922463
- 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:95,358,447
- Description:GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)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: 263735 SVs from 151 studies. See in: genome view
Overlapping variant regions from other studies: 263658 SVs from 151 studies. See in: genome view
Overlapping variant regions from other studies: 71480 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 |
|---|---|---|---|---|---|---|---|
| nsv3922463 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000013.11 | Chr13 | 18,946,182 | 114,304,628 |
| nsv3922463 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 19,520,322 | 115,070,103 |
| nsv3922463 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000013.9 | Chr13 | 18,418,322 | 114,088,205 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161295 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053726.7, VCV000059858.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161295 | Submitted genomic | NC_000013.11:g.(?_ 18946182)_(1143046 28_?)dup | GRCh38 (hg38) | NC_000013.11 | Chr13 | 18,946,182 | 114,304,628 |
| nssv15161295 | Submitted genomic | NC_000013.10:g.(?_ 19520322)_(1150701 03_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 19,520,322 | 115,070,103 |
| nssv15161295 | Submitted genomic | NC_000013.9:g.(?_1 8418322)_(11408820 5_?)dup | NCBI36 (hg18) | NC_000013.9 | Chr13 | 18,418,322 | 114,088,205 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161295 | GRCh37: NC_000013.10:g.(?_19520322)_(115070103_?)dup, GRCh38: NC_000013.11:g.(?_18946182)_(114304628_?)dup, NCBI36: NC_000013.9:g.(?_18418322)_(114088205_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000053726.7, VCV000059858.2 | 3 |