A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3760175



Internal ID19058456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12403406..12685212hg38UCSC Ensembl
Innerchr8:12260915..12542721hg19UCSC Ensembl
Innerchr8:12305286..12587092hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38281807
hg19281807
hg18281807
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1023255
Supporting Variants
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)nssv3760175
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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