A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034132



Internal ID18776666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:11799524..12340733hg38UCSC Ensembl
Innerchr8:11657033..12198242hg19UCSC Ensembl
Innerchr8:11694442..12242613hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38541210
hg19541210
hg18548172
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3754241
Samples
Known GenesCTSB, DEFB130, DEFB134, DEFB135, DEFB136, FAM66D, FAM86B1, FAM90A2P, FDFT1, LOC100133267, LOC392196, USP17L2, USP17L7, ZNF705D
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1034132
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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