A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1016992



Internal ID18759527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:138466715..138481256hg38UCSC Ensembl
Innerchr5:137802404..137816945hg19UCSC Ensembl
Innerchr5:137830303..137844844hg18UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3814542
hg1914542
hg1814542
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5814n100
Supporting Variantsnssv3746643
Samples
Known GenesEGR1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1016992
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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