A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3681738



Internal ID18633333
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 StatusS
Merged Variantsnsv1018042
Supporting Variants
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)nssv3681738
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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