A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065692



Internal ID18808223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46088904..46159702hg38UCSC Ensembl
Innerchr17:44166270..44237068hg19UCSC Ensembl
Innerchr17:41522088..41592845hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3870799
hg1970799
hg1870758
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3186n100
Supporting Variantsnssv3548415, nssv3548416, nssv3548417
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)nsv1065692
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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