A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063018



Internal ID18805549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46147273..46209238hg38UCSC Ensembl
Innerchr17:44224639..44286604hg19UCSC Ensembl
Innerchr17:41580416..41642381hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3861966
hg1961966
hg1861966
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3216n100
Supporting Variantsnssv3556872
Samples
Known GenesKANSL1, KANSL1-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1063018
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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