A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv695194



Internal ID15085160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:141609843..141612668hg38UCSC Ensembl
Innerchr5:140989410..140992235hg19UCSC Ensembl
Innerchr5:140969594..140972419hg18UCSC Ensembl
Innerchr5:140969594..140972419hg17UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg382826
hg192826
hg182826
hg172826
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516495
Supporting Variants
Samples
Known GenesDIAPH1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv695194
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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