A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063377



Internal ID18805908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46138956..46199182hg38UCSC Ensembl
Innerchr17:44216322..44276548hg19UCSC Ensembl
Innerchr17:41572099..41632325hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3860227
hg1960227
hg1860227
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3216n100
Supporting Variantsnssv3556641
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)nsv1063377
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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