nsv6290447
- 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:942,700
- Description:GRCh37/hg19 1p12(chr1:119584796-120527495)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: 2085 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 2075 SVs from 90 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6290447 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 119,042,173 | 119,984,872 |
| nsv6290447 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 119,584,796 | 120,527,495 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17957083 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001834183.1, VCV001340543.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17957083 | Remapped | Perfect | NC_000001.11:g.(?_ 119042173)_(119984 872_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 119,042,173 | 119,984,872 |
| nssv17957083 | Submitted genomic | NC_000001.10:g.(?_ 119584796)_(120527 495_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 119,584,796 | 120,527,495 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17957083 | GRCh37: NC_000001.10:g.(?_119584796)_(120527495_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001834183.1, VCV001340543.1 | 3 |