A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028864



Internal ID19118083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12382314..12555057hg38UCSC Ensembl
Innerchr8:12239823..12412566hg19UCSC Ensembl
Innerchr8:12284194..12456937hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38172744
hg19172744
hg18172744
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7053n100
Supporting Variantsnssv3664745
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)nsv1028864
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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