A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057667



Internal ID19146886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46136788..46186703hg38UCSC Ensembl
Innerchr17:44214154..44264069hg19UCSC Ensembl
Innerchr17:41569931..41619846hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3849916
hg1949916
hg1849916
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3217n100
Supporting Variantsnssv3550198, nssv3550199
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)nsv1057667
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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