A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv663447



Internal ID15053413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:134534245..134638199hg38UCSC Ensembl
Innerchr5:133869935..133973889hg19UCSC Ensembl
Innerchr5:133897834..134001788hg18UCSC Ensembl
Innerchr5:133897834..134001788hg17UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38103955
hg19103955
hg18103955
hg17103955
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520381
Supporting Variants
Samples
Known GenesJADE2, SAR1B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv663447
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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