A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694480



Internal ID15084446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:134505984..134572671hg38UCSC Ensembl
Innerchr5:133841675..133908361hg19UCSC Ensembl
Innerchr5:133869574..133936260hg18UCSC Ensembl
Innerchr5:133869574..133936260hg17UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3866688
hg1966687
hg1866687
hg1766687
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521720
Supporting Variants
Samples
Known GenesJADE2, LOC101927934
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694480
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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