A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062905



Internal ID18805436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46074408..46169258hg38UCSC Ensembl
Innerchr17:44151774..44246624hg19UCSC Ensembl
Innerchr17:41507596..41602401hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3894851
hg1994851
hg1894806
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3179n100
Supporting Variantsnssv3545155
Samples
Known GenesKANSL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1062905
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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