A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1033140



Internal ID19122362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:116699435..116978977hg38UCSC Ensembl
Innerchr5:116035131..116314673hg19UCSC Ensembl
Innerchr5:116063030..116342572hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38279543
hg19279543
hg18279543
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3746594
Samples
Known GenesLOC102467223
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1033140
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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