nsv6637978
- 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:273,364
- Description:GRCh37/hg19 10q24.1-24.2(chr10:99027360-99300723)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: 960 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 960 SVs from 72 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6637978 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 97,267,603 | 97,540,966 |
| nsv6637978 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 99,027,360 | 99,300,723 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18329662 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002472884.1, VCV001808078.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18329662 | Remapped | Perfect | NC_000010.11:g.(?_ 97267603)_(9754096 6_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 97,267,603 | 97,540,966 |
| nssv18329662 | Submitted genomic | NC_000010.10:g.(?_ 99027360)_(9930072 3_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 99,027,360 | 99,300,723 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18329662 | GRCh37: NC_000010.10:g.(?_99027360)_(99300723_?)del | copy number loss | unknown | not provided | Uncertain significance | ClinVar | RCV002472884.1, VCV001808078.1 | 1 |