nsv3919655
- 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:1,390,430
- Description:GRCh38/hg38 14q11.2-12(chr14:23984065-25374494)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: 3825 SVs from 102 studies. See in: genome view
Overlapping variant regions from other studies: 3825 SVs from 102 studies. See in: genome view
Overlapping variant regions from other studies: 970 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 |
|---|---|---|---|---|---|---|---|
| nsv3919655 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 23,984,065 | 25,374,494 |
| nsv3919655 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 24,453,274 | 25,843,700 |
| nsv3919655 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 23,523,114 | 24,913,540 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15139177 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000142873.4, VCV000154806.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15139177 | Submitted genomic | NC_000014.9:g.(?_2 3984065)_(25374494 _?)del | GRCh38 (hg38) | NC_000014.9 | Chr14 | 23,984,065 | 25,374,494 |
| nssv15139177 | Submitted genomic | NC_000014.8:g.(?_2 4453274)_(25843700 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 24,453,274 | 25,843,700 |
| nssv15139177 | Submitted genomic | NC_000014.7:g.(?_2 3523114)_(24913540 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 23,523,114 | 24,913,540 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15139177 | GRCh37: NC_000014.8:g.(?_24453274)_(25843700_?)del, GRCh38: NC_000014.9:g.(?_23984065)_(25374494_?)del, NCBI36: NC_000014.7:g.(?_23523114)_(24913540_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000142873.4, VCV000154806.2 | 1 |