A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3682702



Internal ID18980983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12374760..12564499hg38UCSC Ensembl
Innerchr8:12232269..12422008hg19UCSC Ensembl
Innerchr8:12276640..12466379hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38189740
hg19189740
hg18189740
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1025017
Supporting Variants
Samples
Known GenesDEFB109P1, FAM66A, FAM86B2, FAM90A25P, LOC100506990, LOC649352, LOC729732
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3682702
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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