A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1023494



Internal ID19112711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12382314..12470001hg38UCSC Ensembl
Innerchr8:12239823..12327510hg19UCSC Ensembl
Innerchr8:12284194..12371881hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3887688
hg1987688
hg1887688
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7050n100
Supporting Variantsnssv3760028, nssv3664674, nssv3664662, nssv3664678, nssv3664665, nssv3664679, nssv3664666, nssv3664676, nssv3760032, nssv3664670, nssv3760030, nssv3760025, nssv3760027, nssv3664669, nssv3760024, nssv3664668, nssv3664677, nssv3664675, nssv3760026, nssv3664664, nssv3760031, nssv3664673, nssv3664671, nssv3760023, nssv3760029, nssv3664672, nssv3664663, nssv3664680, nssv3664681, nssv3664667, nssv3664661
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)nsv1023494
Frequency
Sample Size11257
Observed Gain23
Observed Loss8
Observed Complex0
Frequencyn/a


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