nsv7093178
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:51
- Description:NM_001379291.1(BRD4):c.2919_2969del (p.Gln973_Gln989del) AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 76 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 76 SVs from 19 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv7093178 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 15,243,100 | 15,243,150 |
| nsv7093178 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 15,353,911 | 15,353,961 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18786499 | deletion | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002919223.1, VCV002054021.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv18786499 | Submitted genomic | NC_000019.10:g.152 43100_15243150del | GRCh38 (hg38) | NC_000019.10 | Chr19 | 15,243,100 | 15,243,150 |
| nssv18786499 | Submitted genomic | NC_000019.9:g.1535 3911_15353961del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 15,353,911 | 15,353,961 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18786499 | GRCh37: NC_000019.9:g.15353911_15353961del, GRCh38: NC_000019.10:g.15243100_15243150del | deletion | germline | not provided | Uncertain significance | ClinVar | RCV002919223.1, VCV002054021.1 |