A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14292218



Internal ID22184198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:32018915..32019251hg38UCSC Ensembl
chr2:32243984..32244320hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38337
hg19337
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3208874
Supporting Variants
SamplesHG00731
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14292218
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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