A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18206996



Internal ID20774036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:70155593..70172017hg38UCSC Ensembl
chr2:70382725..70399149hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg3816425
hg1916425
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6354479
Supporting Variants
Samples
Known GenesC2orf42
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18206996
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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