A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3664768



Internal ID18963049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12382314..12581370hg38UCSC Ensembl
Innerchr8:12239823..12438879hg19UCSC Ensembl
Innerchr8:12284194..12483250hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38199057
hg19199057
hg18199057
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1022121
Supporting Variants
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)nssv3664768
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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