A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065802



Internal ID19155021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:43338154..43584333hg38UCSC Ensembl
Innerchr17:41415522..41661701hg19UCSC Ensembl
Innerchr17:38771048..39017227hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38246180
hg19246180
hg18246180
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3545118
Samples
Known GenesARL4D, DHX8, ETV4, LINC00910, MIR2117
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1065802
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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