nsv3923097
- 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:6,803,569
- Description:GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)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: 15262 SVs from 113 studies. See in: genome view
Overlapping variant regions from other studies: 15257 SVs from 113 studies. See in: genome view
Overlapping variant regions from other studies: 4042 SVs from 31 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3923097 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 119,117,166 | 125,920,734 |
| nsv3923097 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 118,836,013 | 125,639,577 |
| nsv3923097 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 120,318,703 | 127,122,267 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15119837 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051546.4, VCV000057806.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15119837 | Submitted genomic | NC_000003.12:g.(?_ 119117166)_(125920 734_?)del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 119,117,166 | 125,920,734 |
| nssv15119837 | Submitted genomic | NC_000003.11:g.(?_ 118836013)_(125639 577_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 118,836,013 | 125,639,577 |
| nssv15119837 | Submitted genomic | NC_000003.10:g.(?_ 120318703)_(127122 267_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 120,318,703 | 127,122,267 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15119837 | GRCh37: NC_000003.11:g.(?_118836013)_(125639577_?)del, GRCh38: NC_000003.12:g.(?_119117166)_(125920734_?)del, NCBI36: NC_000003.10:g.(?_120318703)_(127122267_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000051546.4, VCV000057806.1 | 1 |