A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065536



Internal ID18808067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46088437..46142189hg38UCSC Ensembl
Innerchr17:44165803..44219555hg19UCSC Ensembl
Innerchr17:41521621..41575332hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3853753
hg1953753
hg1853712
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3183n100
Supporting Variantsnssv3720305, nssv3546173, nssv3546171, nssv3546172, nssv3546170
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)nsv1065536
Frequency
Sample Size29084
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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