A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066681



Internal ID19155900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46088437..46267777hg38UCSC Ensembl
Innerchr17:44165803..44345143hg19UCSC Ensembl
Innerchr17:41521621..41700920hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38179341
hg19179341
hg18179300
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3181n100
Supporting Variantsnssv3720332, nssv3546409, nssv3720337, nssv3546402, nssv3720335, nssv3720336, nssv3546410, nssv3720334, nssv3546406, nssv3546408, nssv3546407, nssv3720328, nssv3720327, nssv3546405, nssv3546403, nssv3720331, nssv3720333, nssv3720326, nssv3720329, nssv3720330, nssv3546404
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)nsv1066681
Frequency
Sample Size11257
Observed Gain21
Observed Loss0
Observed Complex0
Frequencyn/a


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