A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3557373



Internal ID18508968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46186703..46286792hg38UCSC Ensembl
Innerchr17:44264069..44364158hg19UCSC Ensembl
Innerchr17:41619846..41719935hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38100090
hg19100090
hg18100090
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1060402
Supporting Variants
Samples
Known GenesKANSL1, KANSL1-AS1, LOC644172
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3557373
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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