A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1027008



Internal ID19116227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:129180308..129322738hg38UCSC Ensembl
Innerchr5:128516001..128658431hg19UCSC Ensembl
Innerchr5:128543900..128686330hg18UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg38142431
hg19142431
hg18142431
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3648101
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1027008
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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