A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056473



Internal ID19145692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46147167..46275506hg38UCSC Ensembl
Innerchr17:44224533..44352872hg19UCSC Ensembl
Innerchr17:41580310..41708649hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38128340
hg19128340
hg18128340
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3204n100
Supporting Variantsnssv3556859, nssv3556860
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)nsv1056473
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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