A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3548426



Internal ID18500021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46088904..46186703hg38UCSC Ensembl
Innerchr17:44166270..44264069hg19UCSC Ensembl
Innerchr17:41522088..41619846hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3897800
hg1997800
hg1897759
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1060667
Supporting Variants
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)nssv3548426
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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