A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1018293



Internal ID18760826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12305218..12634130hg38UCSC Ensembl
Innerchr8:12162727..12491639hg19UCSC Ensembl
Innerchr8:12207096..12536010hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38328913
hg19328913
hg18328915
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7033n100
Supporting Variantsnssv3754361
Samples
Known GenesDEFB109P1, DEFB130, FAM66A, FAM86B2, FAM90A25P, 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)nsv1018293
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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