A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066750



Internal ID19155969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46088437..46185584hg38UCSC Ensembl
Innerchr17:44165803..44262950hg19UCSC Ensembl
Innerchr17:41521621..41618727hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3897148
hg1997148
hg1897107
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3182n100
Supporting Variantsnssv3546233, nssv3546227, nssv3546232, nssv3546228, nssv3546231, nssv3546230, nssv3546229, nssv3546226
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)nsv1066750
Frequency
Sample Size11257
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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