nsv3918230
- 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:201,710
- Description:GRCh38/hg38 13q31.3(chr13:91413406-91615115)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: 632 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 632 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 186 SVs from 14 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3918230 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000013.11 | Chr13 | 91,413,406 | 91,615,115 |
| nsv3918230 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 92,065,660 | 92,267,369 |
| nsv3918230 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000013.9 | Chr13 | 90,863,661 | 91,065,370 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15139018 | copy number loss | Multiple | Multiple | See cases | conflicting data from submitters | ClinVar | RCV000142566.5, VCV000154499.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15139018 | Submitted genomic | NC_000013.11:g.(?_ 91413406)_(9161511 5_?)del | GRCh38 (hg38) | NC_000013.11 | Chr13 | 91,413,406 | 91,615,115 |
| nssv15139018 | Submitted genomic | NC_000013.10:g.(?_ 92065660)_(9226736 9_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 92,065,660 | 92,267,369 |
| nssv15139018 | Submitted genomic | NC_000013.9:g.(?_9 0863661)_(91065370 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 90,863,661 | 91,065,370 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15139018 | GRCh37: NC_000013.10:g.(?_92065660)_(92267369_?)del, GRCh38: NC_000013.11:g.(?_91413406)_(91615115_?)del, NCBI36: NC_000013.9:g.(?_90863661)_(91065370_?)del | copy number loss | see ClinVar for details | See cases | conflicting data from submitters | ClinVar | RCV000142566.5, VCV000154499.2 | 1 |