A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028539



Internal ID19117757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12403406..12555281hg38UCSC Ensembl
Innerchr8:12260915..12412790hg19UCSC Ensembl
Innerchr8:12305286..12457161hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38151876
hg19151876
hg18151876
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7070n100
Supporting Variantsnssv3665967, nssv3665969, nssv3665968, nssv3665965, nssv3665966, nssv3665964
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)nsv1028539
Frequency
Sample Size11257
Observed Gain2
Observed Loss4
Observed Complex0
Frequencyn/a


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