A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3545118



Internal ID18843399
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 StatusS
Merged Variantsnsv1065802
Supporting Variants
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)nssv3545118
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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