A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056112



Internal ID18798643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46138956..46171482hg38UCSC Ensembl
Innerchr17:44216322..44248848hg19UCSC Ensembl
Innerchr17:41572099..41604625hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3832527
hg1932527
hg1832527
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3212n100
Supporting Variantsnssv3556637
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)nsv1056112
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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