nsv6637817
- 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:762,015
- Description:GRCh37/hg19 10q26.2(chr10:129160805-129922819)x3 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: 2125 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 2125 SVs from 86 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6637817 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 127,362,541 | 128,124,555 |
| nsv6637817 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 129,160,805 | 129,922,819 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18329908 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002473640.1, VCV001808323.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18329908 | Remapped | Perfect | NC_000010.11:g.(?_ 127362541)_(128124 555_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 127,362,541 | 128,124,555 |
| nssv18329908 | Submitted genomic | NC_000010.10:g.(?_ 129160805)_(129922 819_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 129,160,805 | 129,922,819 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18329908 | GRCh37: NC_000010.10:g.(?_129160805)_(129922819_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV002473640.1, VCV001808323.1 | 3 |