A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18207706



Internal ID20774746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:79906201..79915700hg38UCSC Ensembl
chr2:80133327..80142826hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg389500
hg199500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6341157
Supporting Variants
Samples
Known GenesCTNNA2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18207706
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00066


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