A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057234



Internal ID19146453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46084918..46234597hg38UCSC Ensembl
Innerchr17:44162284..44311963hg19UCSC Ensembl
Innerchr17:41518102..41667740hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38149680
hg19149680
hg18149639
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3180n100
Supporting Variantsnssv3545272
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)nsv1057234
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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