A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017074



Internal ID19106291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12403406..12564499hg38UCSC Ensembl
Innerchr8:12260915..12422008hg19UCSC Ensembl
Innerchr8:12305286..12466379hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38161094
hg19161094
hg18161094
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7070n100
Supporting Variantsnssv3665990, nssv3665992, nssv3665997, nssv3665991, nssv3760149, nssv3665980, nssv3666002, nssv3666004, nssv3665986, nssv3665995, nssv3665996, nssv3760144, nssv3665981, nssv3665994, nssv3666005, nssv3665982, nssv3760143, nssv3760142, nssv3665993, nssv3665985, nssv3760147, nssv3665998, nssv3666000, nssv3760145, nssv3665989, nssv3760146, nssv3666006, nssv3666003, nssv3665999, nssv3665983, nssv3665987, nssv3666001, nssv3665988, nssv3760148, nssv3665984
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)nsv1017074
Frequency
Sample Size11257
Observed Gain29
Observed Loss6
Observed Complex0
Frequencyn/a


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