A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059361



Internal ID18801892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46147167..46169631hg38UCSC Ensembl
Innerchr17:44224533..44246997hg19UCSC Ensembl
Innerchr17:41580310..41602774hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3822465
hg1922465
hg1822465
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3228n100
Supporting Variantsnssv3556812, nssv3556813
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)nsv1059361
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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