A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1022121



Internal ID19111339
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 StatusM
Merged Variantsdgv7054n100
Supporting Variantsnssv3664768, nssv3664770, nssv3664771, nssv3664769
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)nsv1022121
Frequency
Sample Size11257
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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