A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059385



Internal ID18801916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46114400..46190142hg38UCSC Ensembl
Innerchr17:44191766..44267508hg19UCSC Ensembl
Innerchr17:41547543..41623285hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3875743
hg1975743
hg1875743
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3199n100
Supporting Variantsnssv3549775
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)nsv1059385
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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