A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030129



Internal ID19119348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:12849089..13043107hg38UCSC Ensembl
Innerchr5:12849201..13043219hg19UCSC Ensembl
Innerchr5:12902201..13096219hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38194019
hg19194019
hg18194019
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3638268
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)nsv1030129
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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