A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1019468



Internal ID18762003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12176786..12624526hg38UCSC Ensembl
Innerchr8:12034295..12482035hg19UCSC Ensembl
Innerchr8:12071704..12526406hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38447741
hg19447741
hg18454703
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7019n100
Supporting Variantsnssv3681989
Samples
Known GenesDEFB109P1, DEFB130, FAM66A, 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)nsv1019468
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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