A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020860



Internal ID19110078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12382314..12505127hg38UCSC Ensembl
Innerchr8:12239823..12362636hg19UCSC Ensembl
Innerchr8:12284194..12407007hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38122814
hg19122814
hg18122814
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7052n100
Supporting Variantsnssv3664689, nssv3664699, nssv3664713, nssv3664697, nssv3664695, nssv3664700, nssv3664698, nssv3664712, nssv3664704, nssv3760040, nssv3664717, nssv3664691, nssv3664708, nssv3664702, nssv3664710, nssv3664688, nssv3760042, nssv3664714, nssv3664701, nssv3664715, nssv3664707, nssv3664696, nssv3760041, nssv3664706, nssv3664694, nssv3664693, nssv3760039, nssv3664690, nssv3664711, nssv3664703, nssv3664692, nssv3664716, nssv3760043, nssv3664709, nssv3664705
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)nsv1020860
Frequency
Sample Size11257
Observed Gain17
Observed Loss18
Observed Complex0
Frequencyn/a


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