A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700730



Internal ID15437382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:55885081..55906723hg38UCSC Ensembl
Innerchr5:55180909..55202551hg19UCSC Ensembl
Innerchr5:55216666..55238308hg18UCSC Ensembl
Innerchr5:55216666..55238308hg17UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3821643
hg1921643
hg1821643
hg1721643
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524739
Supporting Variants
Samples
Known GenesIL31RA
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700730
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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