A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034802



Internal ID18777335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12139574..12564499hg38UCSC Ensembl
Innerchr8:11997083..12422008hg19UCSC Ensembl
Innerchr8:12034492..12466379hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38424926
hg19424926
hg18431888
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7025n100
Supporting Variantsnssv3681893
Samples
Known GenesDEFB109P1, DEFB130, FAM66A, FAM66D, FAM86B1, FAM86B2, FAM90A25P, FAM90A2P, LOC100133267, LOC100506990, LOC649352, LOC729732
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1034802
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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