A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065201



Internal ID19154420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46114400..46218456hg38UCSC Ensembl
Innerchr17:44191766..44295822hg19UCSC Ensembl
Innerchr17:41547543..41651599hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38104057
hg19104057
hg18104057
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3200n100
Supporting Variantsnssv3720625
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)nsv1065201
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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