nsv3913239
- 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:5,224,528
- Description:GRCh38/hg38 3q13.2-13.31(chr3:112168829-117393356)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: 12136 SVs from 119 studies. See in: genome view
Overlapping variant regions from other studies: 12136 SVs from 119 studies. See in: genome view
Overlapping variant regions from other studies: 3202 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3913239 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 112,168,829 | 117,393,356 |
| nsv3913239 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 111,887,676 | 117,112,203 |
| nsv3913239 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 113,370,366 | 118,594,893 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132282 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000050766.4, VCV000057131.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132282 | Submitted genomic | NC_000003.12:g.(?_ 112168829)_(117393 356_?)del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 112,168,829 | 117,393,356 |
| nssv15132282 | Submitted genomic | NC_000003.11:g.(?_ 111887676)_(117112 203_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 111,887,676 | 117,112,203 |
| nssv15132282 | Submitted genomic | NC_000003.10:g.(?_ 113370366)_(118594 893_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 113,370,366 | 118,594,893 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132282 | GRCh37: NC_000003.11:g.(?_111887676)_(117112203_?)del, GRCh38: NC_000003.12:g.(?_112168829)_(117393356_?)del, NCBI36: NC_000003.10:g.(?_113370366)_(118594893_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000050766.4, VCV000057131.1 | 1 |