A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059613



Internal ID18802144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46088437..46147273hg38UCSC Ensembl
Innerchr17:44165803..44224639hg19UCSC Ensembl
Innerchr17:41521621..41580416hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3858837
hg1958837
hg1858796
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3183n100
Supporting Variantsnssv3546176, nssv3546175
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)nsv1059613
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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