A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1029482



Internal ID19118701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12403406..12634130hg38UCSC Ensembl
Innerchr8:12260915..12491639hg19UCSC Ensembl
Innerchr8:12305286..12536010hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38230725
hg19230725
hg18230725
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7065n100
Supporting Variantsnssv3666878, nssv3666880, nssv3666879
Samples
Known GenesFAM66A, 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)nsv1029482
Frequency
Sample Size11257
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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