nsv3909231
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:323,011
- Description:GRCh37/hg19 13q14.3-21.1(chr13:55145502-55468512)x1 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 752 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 752 SVs from 58 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3909231 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 54,571,367 | 54,894,377 |
nsv3909231 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 55,145,502 | 55,468,512 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15158098 | copy number loss | Multiple | Multiple | not provided | Benign | ClinVar | RCV000738208.2, VCV000601572.2 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15158098 | Remapped | Perfect | NC_000013.11:g.(?_ 54571367)_(5489437 7_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 54,571,367 | 54,894,377 |
nssv15158098 | Submitted genomic | NC_000013.10:g.(?_ 55145502)_(5546851 2_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 55,145,502 | 55,468,512 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15158098 | GRCh37: NC_000013.10:g.(?_55145502)_(55468512_?)del | copy number loss | unknown | not provided | Benign | ClinVar | RCV000738208.2, VCV000601572.2 | 1 |