A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3720523



Internal ID19018804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46088904..46211213hg38UCSC Ensembl
Innerchr17:44166270..44288579hg19UCSC Ensembl
Innerchr17:41522088..41644356hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38122310
hg19122310
hg18122269
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1058647
Supporting Variants
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)nssv3720523
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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