nsv3914757
- 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:11,607,913
- Description:GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)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: 25555 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 25557 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 7076 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3914757 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 129,817,243 | 141,425,155 |
| nsv3914757 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 129,536,086 | 141,143,997 |
| nsv3914757 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 131,018,776 | 142,626,687 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148154 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000140995.3, VCV000152454.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148154 | Submitted genomic | NC_000003.12:g.(?_ 129817243)_(141425 155_?)del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 129,817,243 | 141,425,155 |
| nssv15148154 | Submitted genomic | NC_000003.11:g.(?_ 129536086)_(141143 997_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 129,536,086 | 141,143,997 |
| nssv15148154 | Submitted genomic | NC_000003.10:g.(?_ 131018776)_(142626 687_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 131,018,776 | 142,626,687 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148154 | GRCh37: NC_000003.11:g.(?_129536086)_(141143997_?)del, GRCh38: NC_000003.12:g.(?_129817243)_(141425155_?)del, NCBI36: NC_000003.10:g.(?_131018776)_(142626687_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000140995.3, VCV000152454.1 | 1 |