nsv4673945
- 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:452,790
- Description:GRCh37/hg19 1p12(chr1:119836834-120289623)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: 1130 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 1130 SVs from 87 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4673945 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 119,294,211 | 119,747,000 |
| nsv4673945 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 119,836,834 | 120,289,623 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16206512 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001005131.1, VCV000814119.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16206512 | Remapped | Perfect | NC_000001.11:g.(?_ 119294211)_(119747 000_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 119,294,211 | 119,747,000 |
| nssv16206512 | Submitted genomic | NC_000001.10:g.(?_ 119836834)_(120289 623_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 119,836,834 | 120,289,623 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16206512 | GRCh37: NC_000001.10:g.(?_119836834)_(120289623_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001005131.1, VCV000814119.1 | 3 |