A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18082962



Internal ID20650002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:206442301..206444400hg38UCSC Ensembl
chr2:207307025..207309124hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg382100
hg192100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6351472
Supporting Variants
Samples
Known GenesADAM23
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18082962
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00839


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