nsv6636265
- 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:8,691,379
- Description:GRCh37/hg19 1q42.13-43(chr1:227992928-236659905)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: 23175 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 23161 SVs from 125 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6636265 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 227,805,227 | 236,496,605 |
| nsv6636265 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 227,992,928 | 236,659,905 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18330595 | copy number gain | Multiple | Multiple | not provided | Likely pathogenic | ClinVar | RCV002475638.1, VCV001809265.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18330595 | Remapped | Good | NC_000001.11:g.(?_ 227805227)_(236496 605_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 227,805,227 | 236,496,605 |
| nssv18330595 | Submitted genomic | NC_000001.10:g.(?_ 227992928)_(236659 905_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 227,992,928 | 236,659,905 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18330595 | GRCh37: NC_000001.10:g.(?_227992928)_(236659905_?)dup | copy number gain | unknown | not provided | Likely pathogenic | ClinVar | RCV002475638.1, VCV001809265.1 | 3 |