A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1029235



Internal ID19118454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12382314..12649550hg38UCSC Ensembl
Innerchr8:12239823..12507059hg19UCSC Ensembl
Innerchr8:12284194..12551430hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38267237
hg19267237
hg18267237
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7065n100
Supporting Variantsnssv3664818, nssv3760059, nssv3664819, nssv3760058, nssv3760060
Samples
Known GenesDEFB109P1, FAM66A, FAM86B2, FAM90A25P, LOC100506990, LOC729732
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1029235
Frequency
Sample Size11257
Observed Gain3
Observed Loss2
Observed Complex0
Frequencyn/a


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