nsv3919106
- 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:86,833,716
- Description:GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)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: 256026 SVs from 148 studies. See in: genome view
Overlapping variant regions from other studies: 253866 SVs from 148 studies. See in: genome view
Overlapping variant regions from other studies: 68560 SVs from 41 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3919106 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 20,043,514 | 106,877,229 |
| nsv3919106 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 20,511,673 | 107,285,437 |
| nsv3919106 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 19,581,513 | 106,356,482 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161107 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000143373.6, VCV000155306.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161107 | Submitted genomic | NC_000014.9:g.(?_2 0043514)_(10687722 9_?)dup | GRCh38 (hg38) | NC_000014.9 | Chr14 | 20,043,514 | 106,877,229 |
| nssv15161107 | Submitted genomic | NC_000014.8:g.(?_2 0511673)_(10728543 7_?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,511,673 | 107,285,437 |
| nssv15161107 | Submitted genomic | NC_000014.7:g.(?_1 9581513)_(10635648 2_?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 19,581,513 | 106,356,482 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161107 | GRCh37: NC_000014.8:g.(?_20511673)_(107285437_?)dup, GRCh38: NC_000014.9:g.(?_20043514)_(106877229_?)dup, NCBI36: NC_000014.7:g.(?_19581513)_(106356482_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000143373.6, VCV000155306.2 | 3 |