nsv6637125
- 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:314,770
- Description:GRCh37/hg19 1p12(chr1:119836835-120151604)x4 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: 871 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 871 SVs from 82 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6637125 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 119,294,212 | 119,608,981 |
| nsv6637125 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 119,836,835 | 120,151,604 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18328988 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002474974.1, VCV001809129.1 | 4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18328988 | Remapped | Perfect | NC_000001.11:g.(?_ 119294212)_(119608 981_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 119,294,212 | 119,608,981 |
| nssv18328988 | Submitted genomic | NC_000001.10:g.(?_ 119836835)_(120151 604_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 119,836,835 | 120,151,604 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18328988 | GRCh37: NC_000001.10:g.(?_119836835)_(120151604_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV002474974.1, VCV001809129.1 | 4 |