A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030503



Internal ID19119722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12468589..12709141hg38UCSC Ensembl
Innerchr8:12326098..12566650hg19UCSC Ensembl
Innerchr8:12370469..12611021hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38240553
hg19240553
hg18240553
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7077n100
Supporting Variantsnssv3760185
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)nsv1030503
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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