A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1027539



Internal ID18770071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:62161935..62704181hg38UCSC Ensembl
Innerchr5:61457762..62000008hg19UCSC Ensembl
Innerchr5:61493519..62035764hg18UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38542247
hg19542247
hg18542246
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5689n100
Supporting Variantsnssv3640779
Samples
Known GenesDIMT1, IPO11, IPO11-LRRC70, KIF2A, LRRC70
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1027539
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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