A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1024210



Internal ID19113427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12382314..12513862hg38UCSC Ensembl
Innerchr8:12239823..12371371hg19UCSC Ensembl
Innerchr8:12284194..12415742hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38131549
hg19131549
hg18131549
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7051n100
Supporting Variantsnssv3664723, nssv3664721, nssv3664719, nssv3664720, nssv3664718, nssv3664725, nssv3664722, nssv3664724, nssv3664726, nssv3760044, nssv3760045
Samples
Known GenesDEFB109P1, FAM66A, FAM86B2, FAM90A25P, LOC100506990
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1024210
Frequency
Sample Size11257
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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