A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066984



Internal ID18809515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46137522..46331296hg38UCSC Ensembl
Innerchr17:44214888..44408662hg19UCSC Ensembl
Innerchr17:41570665..41764423hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38193775
hg19193775
hg18193759
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3209n100
Supporting Variantsnssv3556531, nssv3556527, nssv3556524, nssv3556525, nssv3556530, nssv3556526, nssv3556529, nssv3556528
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)nsv1066984
Frequency
Sample Size29084
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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