A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028424



Internal ID19117642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12382314..12418220hg38UCSC Ensembl
Innerchr8:12239823..12275729hg19UCSC Ensembl
Innerchr8:12284194..12320100hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3835907
hg1935907
hg1835907
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7046n100
Supporting Variantsnssv3664625, nssv3760007, nssv3760006, nssv3664626, nssv3760008
Samples
Known GenesDEFB109P1, FAM66A, FAM90A25P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1028424
Frequency
Sample Size11257
Observed Gain2
Observed Loss3
Observed Complex0
Frequencyn/a


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