A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4020748



Internal ID22082379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:31274286..31276292hg38UCSC Ensembl
Outerchr5:31273870..31278657hg38UCSC Ensembl
Innerchr5:31274393..31276399hg19UCSC Ensembl
Outerchr5:31273977..31278764hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg384788
hg194788
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1156327
Supporting Variants
Samples
Known GenesCDH6
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4020748
Frequency
Sample Size131
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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