A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020355



Internal ID19109574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12382314..12454117hg38UCSC Ensembl
Innerchr8:12239823..12311626hg19UCSC Ensembl
Innerchr8:12284194..12355997hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3871804
hg1971804
hg1871804
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7047n100
Supporting Variantsnssv3664651, nssv3760018, nssv3760022, nssv3760019, nssv3664656, nssv3664646, nssv3760017, nssv3760020, nssv3664642, nssv3664653, nssv3664644, nssv3664648, nssv3664654, nssv3664647, nssv3664652, nssv3664655, nssv3664645, nssv3664649, nssv3664650, nssv3664643, nssv3760021
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)nsv1020355
Frequency
Sample Size11257
Observed Gain6
Observed Loss15
Observed Complex0
Frequencyn/a


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