A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030893



Internal ID19120113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12383056..12504379hg38UCSC Ensembl
Innerchr8:12240565..12361888hg19UCSC Ensembl
Innerchr8:12284936..12406259hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38121324
hg19121324
hg18121324
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7058n100
Supporting Variantsnssv3664872
Samples
Known GenesDEFB109P1, FAM66A, FAM86B2, FAM90A25P, LOC100506990
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030893
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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