nsv3920333
- 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:411,099
- Description:GRCh38/hg38 13q14.3-21.1(chr13:54447999-54859097)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: 937 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 937 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 272 SVs from 15 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3920333 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000013.11 | Chr13 | 54,447,999 | 54,859,097 |
| nsv3920333 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 55,022,134 | 55,433,232 |
| nsv3920333 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000013.9 | Chr13 | 53,920,135 | 54,331,233 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15137602 | copy number loss | Multiple | Multiple | See cases | Likely benign | ClinVar | RCV000139680.4, VCV000150884.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15137602 | Submitted genomic | NC_000013.11:g.(?_ 54447999)_(5485909 7_?)del | GRCh38 (hg38) | NC_000013.11 | Chr13 | 54,447,999 | 54,859,097 |
| nssv15137602 | Submitted genomic | NC_000013.10:g.(?_ 55022134)_(5543323 2_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 55,022,134 | 55,433,232 |
| nssv15137602 | Submitted genomic | NC_000013.9:g.(?_5 3920135)_(54331233 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 53,920,135 | 54,331,233 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15137602 | GRCh37: NC_000013.10:g.(?_55022134)_(55433232_?)del, GRCh38: NC_000013.11:g.(?_54447999)_(54859097_?)del, NCBI36: NC_000013.9:g.(?_53920135)_(54331233_?)del | copy number loss | not provided | See cases | Likely benign | ClinVar | RCV000139680.4, VCV000150884.2 | 1 |