A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056099



Internal ID18798630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46153960..46215377hg38UCSC Ensembl
Innerchr17:44231326..44292743hg19UCSC Ensembl
Innerchr17:41587103..41648520hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3861418
hg1961418
hg1861418
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3216n100
Supporting Variantsnssv3557274
Samples
Known GenesKANSL1, KANSL1-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056099
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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