A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1029439



Internal ID19118658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12468589..12695330hg38UCSC Ensembl
Innerchr8:12326098..12552839hg19UCSC Ensembl
Innerchr8:12370469..12597210hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38226742
hg19226742
hg18226742
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7077n100
Supporting Variantsnssv3760184
Samples
Known GenesLOC100506990, LOC729732
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1029439
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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