A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061043



Internal ID19150262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46138956..46188656hg38UCSC Ensembl
Innerchr17:44216322..44266022hg19UCSC Ensembl
Innerchr17:41572099..41621799hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3849701
hg1949701
hg1849701
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3217n100
Supporting Variantsnssv3556639
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)nsv1061043
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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