A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064174



Internal ID18806705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46137522..46364104hg38UCSC Ensembl
Innerchr17:44214888..44441470hg19UCSC Ensembl
Innerchr17:41570665..41797212hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38226583
hg19226583
hg18226548
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3185n100
Supporting Variantsnssv3556535, nssv3556536
Samples
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064174
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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