nsv3923249
- 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:8,870,360
- Description:GRCh38/hg38 6p25.3-24.3(chr6:165675-9036034)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: 28872 SVs from 128 studies. See in: genome view
Overlapping variant regions from other studies: 28863 SVs from 128 studies. See in: genome view
Overlapping variant regions from other studies: 8103 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3923249 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 165,675 | 9,036,034 |
| nsv3923249 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 165,675 | 9,036,267 |
| nsv3923249 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 110,675 | 8,981,266 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132440 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052165.8, VCV000058411.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132440 | Submitted genomic | NC_000006.12:g.(?_ 165675)_(9036034_? )del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 165,675 | 9,036,034 |
| nssv15132440 | Submitted genomic | NC_000006.11:g.(?_ 165675)_(9036267_? )del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 165,675 | 9,036,267 |
| nssv15132440 | Submitted genomic | NC_000006.10:g.(?_ 110675)_(8981266_? )del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 110,675 | 8,981,266 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132440 | GRCh37: NC_000006.11:g.(?_165675)_(9036267_?)del, GRCh38: NC_000006.12:g.(?_165675)_(9036034_?)del, NCBI36: NC_000006.10:g.(?_110675)_(8981266_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000052165.8, VCV000058411.2 | 1 |