nsv7093158
- 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:962
- Description:
NM_001009925.2(TMEM230):c.100-848_213del 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: 68 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 68 SVs from 23 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv7093158 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000020.11 | Chr20 | 5,106,197 | 5,107,158 |
| nsv7093158 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 5,086,843 | 5,087,804 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18786557 | deletion | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV003011908.7, VCV002088969.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv18786557 | Submitted genomic | NC_000020.11:g.510 6197_5107158del | GRCh38 (hg38) | NC_000020.11 | Chr20 | 5,106,197 | 5,107,158 |
| nssv18786557 | Submitted genomic | NC_000020.10:g.508 6843_5087804del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 5,086,843 | 5,087,804 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18786557 | GRCh37: NC_000020.10:g.5086843_5087804del, GRCh38: NC_000020.11:g.5106197_5107158del | deletion | germline | not provided | Uncertain significance | ClinVar | RCV003011908.7, VCV002088969.1 |