nsv3918305
- 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:21,534,432
- Description:GRCh38/hg38 13q21.32-31.2(chr13:66320998-87855429)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: 58133 SVs from 130 studies. See in: genome view
Overlapping variant regions from other studies: 58181 SVs from 130 studies. See in: genome view
Overlapping variant regions from other studies: 16026 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3918305 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000013.11 | Chr13 | 66,320,998 | 87,855,429 |
| nsv3918305 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 66,895,130 | 88,507,684 |
| nsv3918305 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000013.9 | Chr13 | 65,793,131 | 87,305,685 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161314 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000134874.6, VCV000145515.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161314 | Submitted genomic | NC_000013.11:g.(?_ 66320998)_(8785542 9_?)del | GRCh38 (hg38) | NC_000013.11 | Chr13 | 66,320,998 | 87,855,429 |
| nssv15161314 | Submitted genomic | NC_000013.10:g.(?_ 66895130)_(8850768 4_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 66,895,130 | 88,507,684 |
| nssv15161314 | Submitted genomic | NC_000013.9:g.(?_6 5793131)_(87305685 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 65,793,131 | 87,305,685 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161314 | GRCh37: NC_000013.10:g.(?_66895130)_(88507684_?)del, GRCh38: NC_000013.11:g.(?_66320998)_(87855429_?)del, NCBI36: NC_000013.9:g.(?_65793131)_(87305685_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000134874.6, VCV000145515.2 | 1 |