nsv3913048
- 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:7,926,760
- Description:GRCh38/hg38 3q13.13-13.31(chr3:108242572-116169331)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: 18375 SVs from 124 studies. See in: genome view
Overlapping variant regions from other studies: 18375 SVs from 124 studies. See in: genome view
Overlapping variant regions from other studies: 4786 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3913048 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 108,242,572 | 116,169,331 |
| nsv3913048 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 107,961,419 | 115,888,178 |
| nsv3913048 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 109,444,109 | 117,370,868 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15119835 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051544.4, VCV000057804.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15119835 | Submitted genomic | NC_000003.12:g.(?_ 108242572)_(116169 331_?)del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 108,242,572 | 116,169,331 |
| nssv15119835 | Submitted genomic | NC_000003.11:g.(?_ 107961419)_(115888 178_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 107,961,419 | 115,888,178 |
| nssv15119835 | Submitted genomic | NC_000003.10:g.(?_ 109444109)_(117370 868_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 109,444,109 | 117,370,868 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15119835 | GRCh37: NC_000003.11:g.(?_107961419)_(115888178_?)del, GRCh38: NC_000003.12:g.(?_108242572)_(116169331_?)del, NCBI36: NC_000003.10:g.(?_109444109)_(117370868_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000051544.4, VCV000057804.1 | 1 |