A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028632



Internal ID19117850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12376730..12470001hg38UCSC Ensembl
Innerchr8:12234239..12327510hg19UCSC Ensembl
Innerchr8:12278610..12371881hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3893272
hg1993272
hg1893272
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7049n100
Supporting Variantsnssv3663761
Samples
Known GenesDEFB109P1, FAM66A, FAM86B2, FAM90A25P, LOC100506990, LOC649352
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1028632
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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