A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18207432



Internal ID20774473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:174998001..175013400hg38UCSC Ensembl
chr2:175862729..175878128hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3815400
hg1915400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6351414
Supporting Variants
Samples
Known GenesCHN1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18207432
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00043


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