nsv3900589
- 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:8,087
- Description:GRCh37/hg19 10q23.31(chr10:89689267-89697353)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: 95 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 14 SVs from 9 studies. See in: genome view
Overlapping variant regions from other studies: 95 SVs from 23 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3900589 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 87,929,510 | 87,937,596 |
nsv3900589 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_013171807.1 | Chr10|NW_0 13171807.1 | 145,302 | 153,388 |
nsv3900589 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 89,689,267 | 89,697,353 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15170907 | copy number loss | Multiple | Multiple | not provided | Benign | ClinVar | RCV000749761.2, VCV000613125.2 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15170907 | Remapped | Perfect | NW_013171807.1:g.( ?_145302)_(153388_ ?)del | GRCh38.p12 | Second Pass | NW_013171807.1 | Chr10|NW_0 13171807.1 | 145,302 | 153,388 |
nssv15170907 | Remapped | Perfect | NC_000010.11:g.(?_ 87929510)_(8793759 6_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 87,929,510 | 87,937,596 |
nssv15170907 | Submitted genomic | NC_000010.10:g.(?_ 89689267)_(8969735 3_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 89,689,267 | 89,697,353 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15170907 | GRCh37: NC_000010.10:g.(?_89689267)_(89697353_?)del | copy number loss | unknown | not provided | Benign | ClinVar | RCV000749761.2, VCV000613125.2 | 1 |