nsv3924173
- 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:6,478,273
- Description:GRCh38/hg38 13q14.11-14.2(chr13:43505396-49983668)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: 16686 SVs from 108 studies. See in: genome view
Overlapping variant regions from other studies: 16687 SVs from 108 studies. See in: genome view
Overlapping variant regions from other studies: 4453 SVs from 28 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3924173 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000013.11 | Chr13 | 43,505,396 | 49,983,668 |
| nsv3924173 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 44,079,532 | 50,557,804 |
| nsv3924173 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000013.9 | Chr13 | 42,977,532 | 49,455,805 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15119800 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051378.4, VCV000057643.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15119800 | Submitted genomic | NC_000013.11:g.(?_ 43505396)_(4998366 8_?)del | GRCh38 (hg38) | NC_000013.11 | Chr13 | 43,505,396 | 49,983,668 |
| nssv15119800 | Submitted genomic | NC_000013.10:g.(?_ 44079532)_(5055780 4_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 44,079,532 | 50,557,804 |
| nssv15119800 | Submitted genomic | NC_000013.9:g.(?_4 2977532)_(49455805 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 42,977,532 | 49,455,805 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15119800 | GRCh37: NC_000013.10:g.(?_44079532)_(50557804_?)del, GRCh38: NC_000013.11:g.(?_43505396)_(49983668_?)del, NCBI36: NC_000013.9:g.(?_42977532)_(49455805_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000051378.4, VCV000057643.1 | 1 |