nsv3924299
- 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:1,150,231
- Description:GRCh38/hg38 14q32.2-32.31(chr14:99794337-100944567)x1 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: 3577 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 3577 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 1000 SVs from 21 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3924299 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 99,794,337 | 100,944,567 |
| nsv3924299 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 100,260,674 | 101,410,904 |
| nsv3924299 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 99,330,427 | 100,480,657 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15137475 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000141596.4, VCV000153097.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15137475 | Submitted genomic | NC_000014.9:g.(?_9 9794337)_(10094456 7_?)del | GRCh38 (hg38) | NC_000014.9 | Chr14 | 99,794,337 | 100,944,567 |
| nssv15137475 | Submitted genomic | NC_000014.8:g.(?_1 00260674)_(1014109 04_?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 100,260,674 | 101,410,904 |
| nssv15137475 | Submitted genomic | NC_000014.7:g.(?_9 9330427)_(10048065 7_?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 99,330,427 | 100,480,657 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15137475 | GRCh37: NC_000014.8:g.(?_100260674)_(101410904_?)del, GRCh38: NC_000014.9:g.(?_99794337)_(100944567_?)del, NCBI36: NC_000014.7:g.(?_99330427)_(100480657_?)del | copy number loss | tested-inconclusive | See cases | Pathogenic | ClinVar | RCV000141596.4, VCV000153097.2 | 1 |