A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028325



Internal ID19117543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12382314..12555281hg38UCSC Ensembl
Innerchr8:12239823..12412790hg19UCSC Ensembl
Innerchr8:12284194..12457161hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38172968
hg19172968
hg18172968
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7054n100
Supporting Variantsnssv3664748, nssv3664747, nssv3760047, nssv3664746
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)nsv1028325
Frequency
Sample Size11257
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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