A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14323323



Internal ID22172699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:178609627..178609853hg38UCSC Ensembl
chr5:178036628..178036854hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38227
hg19227
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3525589
Supporting Variants
SamplesHG00514
Known GenesCLK4
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14323323
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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