nsv3917135
- 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:3,670,016
- Description:GRCh38/hg38 3p21.2-14.3(chr3:51394434-55064449)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: 8063 SVs from 115 studies. See in: genome view
Overlapping variant regions from other studies: 8060 SVs from 115 studies. See in: genome view
Overlapping variant regions from other studies: 2133 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 |
|---|---|---|---|---|---|---|---|
| nsv3917135 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 51,394,434 | 55,064,449 |
| nsv3917135 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 51,431,865 | 55,098,476 |
| nsv3917135 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 51,406,905 | 55,073,516 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15138924 | copy number loss | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV000143631.5, VCV000155564.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15138924 | Submitted genomic | NC_000003.12:g.(?_ 51394434)_(5506444 9_?)del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 51,394,434 | 55,064,449 |
| nssv15138924 | Submitted genomic | NC_000003.11:g.(?_ 51431865)_(5509847 6_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 51,431,865 | 55,098,476 |
| nssv15138924 | Submitted genomic | NC_000003.10:g.(?_ 51406905)_(5507351 6_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 51,406,905 | 55,073,516 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15138924 | GRCh37: NC_000003.11:g.(?_51431865)_(55098476_?)del, GRCh38: NC_000003.12:g.(?_51394434)_(55064449_?)del, NCBI36: NC_000003.10:g.(?_51406905)_(55073516_?)del | copy number loss | not provided | See cases | Likely pathogenic | ClinVar | RCV000143631.5, VCV000155564.2 | 1 |