A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1018042



Internal ID19107259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:11809987..12024876hg38UCSC Ensembl
Innerchr8:11667496..11882385hg19UCSC Ensembl
Innerchr8:11704905..11919794hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38214890
hg19214890
hg18214890
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3681738
Samples
Known GenesCTSB, DEFB134, DEFB135, DEFB136, FDFT1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1018042
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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