A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1021519



Internal ID19110737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12382314..12500660hg38UCSC Ensembl
Innerchr8:12239823..12358169hg19UCSC Ensembl
Innerchr8:12284194..12402540hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38118347
hg19118347
hg18118347
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7051n100
Supporting Variantsnssv3664685, nssv3664684
Samples
Known GenesDEFB109P1, FAM66A, 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)nsv1021519
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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