A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519930



Internal ID15100537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:31458102..31458352hg38UCSC Ensembl
Innerchr17:29785120..29785370hg19UCSC Ensembl
Innerchr17:26809246..26809496hg18UCSC Ensembl
Innerchr17:26809246..26809496hg17UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38251
hg19251
hg18251
hg17251
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv688882, nssv679468, nssv682290, nssv690398, nssv659531, nssv674162
Samples
Known GenesRAB11FIP4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519930
Frequency
Sample Size2026
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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