A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522350



Internal ID15102957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:31457413..31458352hg38UCSC Ensembl
Innerchr17:29784431..29785370hg19UCSC Ensembl
Innerchr17:26808557..26809496hg18UCSC Ensembl
Innerchr17:26808557..26809496hg17UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38940
hg19940
hg18940
hg17940
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695130
Samples
Known GenesRAB11FIP4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522350
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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