A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18208243



Internal ID20775283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:196626001..196671400hg38UCSC Ensembl
chr2:197490725..197536124hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3845400
hg1945400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6351078
Supporting Variants
Samples
Known GenesCCDC150
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18208243
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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