nsv7093372
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:271,616
- Description:GRCh37/hg19 1q44(chr1:246367970-246639585)x1 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: 1526 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 1527 SVs from 83 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nsv7093372 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 246,204,668 | 246,476,283 |
nsv7093372 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 246,367,970 | 246,639,585 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv18786301 | copy number loss | Multiple | Multiple | not provided | not provided | ClinVar | RCV002509029.1, VCV001810325.1 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18786301 | Remapped | Perfect | NC_000001.11:g.(?_ 246204668)_(246476 283_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 246,204,668 | 246,476,283 |
nssv18786301 | Submitted genomic | NC_000001.10:g.(?_ 246367970)_(246639 585_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 246,367,970 | 246,639,585 |
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 |
---|---|---|---|---|---|---|---|---|
nssv18786301 | GRCh37: NC_000001.10:g.(?_246367970)_(246639585_?)del | copy number loss | unknown | not provided | not provided | ClinVar | RCV002509029.1, VCV001810325.1 | 1 |