A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3546262



Internal ID18497857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46088437..46190324hg38UCSC Ensembl
Innerchr17:44165803..44267690hg19UCSC Ensembl
Innerchr17:41521621..41623467hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38101888
hg19101888
hg18101847
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1063436
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)nssv3546262
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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