nsv3900811
- 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:1,448,917
- Description:GRCh37/hg19 10q24.32-24.33(chr10:103891057-105339973)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: 3901 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 3901 SVs from 92 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3900811 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 102,131,300 | 103,580,216 |
nsv3900811 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 103,891,057 | 105,339,973 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15162411 | copy number loss | Multiple | Multiple | not provided | Likely pathogenic | ClinVar | RCV000683260.1, VCV000563771.1 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15162411 | Remapped | Perfect | NC_000010.11:g.(?_ 102131300)_(103580 216_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 102,131,300 | 103,580,216 |
nssv15162411 | Submitted genomic | NC_000010.10:g.(?_ 103891057)_(105339 973_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 103,891,057 | 105,339,973 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15162411 | GRCh37: NC_000010.10:g.(?_103891057)_(105339973_?)del | copy number loss | germline | not provided | Likely pathogenic | ClinVar | RCV000683260.1, VCV000563771.1 | 1 |