A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060186



Internal ID18802717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46147167..46211213hg38UCSC Ensembl
Innerchr17:44224533..44288579hg19UCSC Ensembl
Innerchr17:41580310..41644356hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3864047
hg1964047
hg1864047
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3216n100
Supporting Variantsnssv3724181, nssv3556849, nssv3724183, nssv3556848, nssv3556847, nssv3724182, nssv3556846, nssv3556845
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)nsv1060186
Frequency
Sample Size29084
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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