A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17398362



Internal ID22456232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:108630530..108630610hg38UCSC Ensembl
chr2:109246986..109247066hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5871397
Supporting Variants
Samples
Known GenesLIMS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17398362
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.004


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