A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv695643



Internal ID15432295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:135280168..135303017hg38UCSC Ensembl
Innerchr5:134615858..134638707hg19UCSC Ensembl
Innerchr5:134643757..134666606hg18UCSC Ensembl
Innerchr5:134643757..134666606hg17UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3822850
hg1922850
hg1822850
hg1722850
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv518218
Supporting Variants
Samples
Known GenesC5orf66
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv695643
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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