A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059508



Internal ID18802039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46137522..46177128hg38UCSC Ensembl
Innerchr17:44214888..44254494hg19UCSC Ensembl
Innerchr17:41570665..41610271hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3839607
hg1939607
hg1839607
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3212n100
Supporting Variantsnssv3556407
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)nsv1059508
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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