nsv3886856
- 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:428,228
- Description:GRCh37/hg19 1p36.11(chr1:27119557-27547784) AND not specified
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1460 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 1460 SVs from 71 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3886856 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 26,793,066 | 27,221,293 |
| nsv3886856 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 27,119,557 | 27,547,784 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969547 | copy number gain | Multiple | Multiple | not specified | Uncertain significance | ClinVar | RCV002053011.3, VCV001527725.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969547 | Remapped | Perfect | NC_000001.11:g.(?_ 26793066)_(2722129 3_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 26,793,066 | 27,221,293 |
| nssv17969547 | Submitted genomic | NC_000001.10:g.(?_ 27119557)_(2754778 4_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 27,119,557 | 27,547,784 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969547 | GRCh37: NC_000001.10:g.(?_27119557)_(27547784_?)dup | copy number gain | germline | not specified | Uncertain significance | ClinVar | RCV002053011.3, VCV001527725.3 |