A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18206118



Internal ID20773158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:226776680..226782806hg38UCSC Ensembl
chr2:227641396..227647522hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg386127
hg196127
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6350796
Supporting Variants
Samples
Known GenesIRS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18206118
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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