nsv3918812
- 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:47,770,646
- Description:GRCh38/hg38 13q14.12-31.3(chr13:44967523-92738168)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: 127893 SVs from 140 studies. See in: genome view
Overlapping variant regions from other studies: 127957 SVs from 140 studies. See in: genome view
Overlapping variant regions from other studies: 34942 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3918812 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000013.11 | Chr13 | 44,967,523 | 92,738,168 |
| nsv3918812 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 45,541,658 | 93,390,421 |
| nsv3918812 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000013.9 | Chr13 | 44,439,658 | 92,188,422 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161035 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000050891.5, VCV000057227.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161035 | Submitted genomic | NC_000013.11:g.(?_ 44967523)_(9273816 8_?)del | GRCh38 (hg38) | NC_000013.11 | Chr13 | 44,967,523 | 92,738,168 |
| nssv15161035 | Submitted genomic | NC_000013.10:g.(?_ 45541658)_(9339042 1_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 45,541,658 | 93,390,421 |
| nssv15161035 | Submitted genomic | NC_000013.9:g.(?_4 4439658)_(92188422 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 44,439,658 | 92,188,422 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161035 | GRCh37: NC_000013.10:g.(?_45541658)_(93390421_?)del, GRCh38: NC_000013.11:g.(?_44967523)_(92738168_?)del, NCBI36: NC_000013.9:g.(?_44439658)_(92188422_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000050891.5, VCV000057227.1 | 1 |