A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1031257



Internal ID18773790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:169272339..169832306hg38UCSC Ensembl
Innerchr5:168699343..169259310hg19UCSC Ensembl
Innerchr5:168631921..169191888hg18UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38559968
hg19559968
hg18559968
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3649123
Samples
Known GenesDOCK2, SLIT3, SPDL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1031257
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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