A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058353



Internal ID18800884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46130778..46188656hg38UCSC Ensembl
Innerchr17:44208144..44266022hg19UCSC Ensembl
Innerchr17:41563921..41621799hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3857879
hg1957879
hg1857879
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3210n100
Supporting Variantsnssv3720903, nssv3720902
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)nsv1058353
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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