A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1023000



Internal ID19112217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12403406..12496209hg38UCSC Ensembl
Innerchr8:12260915..12353718hg19UCSC Ensembl
Innerchr8:12305286..12398089hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3892804
hg1992804
hg1892804
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7068n100
Supporting Variantsnssv3665831, nssv3760122, nssv3665834, nssv3665833, nssv3665832
Samples
Known GenesFAM66A, FAM86B2, FAM90A25P, LOC100506990
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1023000
Frequency
Sample Size11257
Observed Gain3
Observed Loss2
Observed Complex0
Frequencyn/a


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