nsv3873640
- 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:627,343
- Description:GRCh37/hg19 1p13.2-13.1(chr1:116065879-116693221)x3 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1614 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 1614 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3873640 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 115,523,258 | 116,150,600 |
nsv3873640 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 116,065,879 | 116,693,221 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15150647 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000511605.2, VCV000441881.2 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15150647 | Remapped | Perfect | NC_000001.11:g.(?_ 115523258)_(116150 600_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 115,523,258 | 116,150,600 |
nssv15150647 | Submitted genomic | NC_000001.10:g.(?_ 116065879)_(116693 221_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 116,065,879 | 116,693,221 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15150647 | GRCh37: NC_000001.10:g.(?_116065879)_(116693221_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000511605.2, VCV000441881.2 | 3 |