nsv3913204
- 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:28,598,530
- Description:GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)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: 85139 SVs from 139 studies. See in: genome view
Overlapping variant regions from other studies: 85334 SVs from 139 studies. See in: genome view
Overlapping variant regions from other studies: 22299 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 |
|---|---|---|---|---|---|---|---|
| nsv3913204 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 20,043,513 | 48,642,042 |
| nsv3913204 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 20,511,672 | 49,111,245 |
| nsv3913204 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 19,581,512 | 48,180,995 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148269 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000143748.4, VCV000155681.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148269 | Submitted genomic | NC_000014.9:g.(?_2 0043513)_(48642042 _?)dup | GRCh38 (hg38) | NC_000014.9 | Chr14 | 20,043,513 | 48,642,042 |
| nssv15148269 | Submitted genomic | NC_000014.8:g.(?_2 0511672)_(49111245 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,511,672 | 49,111,245 |
| nssv15148269 | Submitted genomic | NC_000014.7:g.(?_1 9581512)_(48180995 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 19,581,512 | 48,180,995 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148269 | GRCh37: NC_000014.8:g.(?_20511672)_(49111245_?)dup, GRCh38: NC_000014.9:g.(?_20043513)_(48642042_?)dup, NCBI36: NC_000014.7:g.(?_19581512)_(48180995_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000143748.4, VCV000155681.2 | 3 |