A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1026082



Internal ID19115299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12384292..12545643hg38UCSC Ensembl
Innerchr8:12241801..12403152hg19UCSC Ensembl
Innerchr8:12286172..12447523hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38161352
hg19161352
hg18161352
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7054n100
Supporting Variantsnssv3664894, nssv3664895
Samples
Known GenesDEFB109P1, FAM66A, FAM86B2, FAM90A25P, LOC100506990, LOC729732
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1026082
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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