A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1033172



Internal ID19122394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12382314..12486092hg38UCSC Ensembl
Innerchr8:12239823..12343601hg19UCSC Ensembl
Innerchr8:12284194..12387972hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38103779
hg19103779
hg18103779
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7050n100
Supporting Variantsnssv3664683, nssv3760033, nssv3664682, nssv3760035, nssv3760034, nssv3760036
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)nsv1033172
Frequency
Sample Size11257
Observed Gain3
Observed Loss3
Observed Complex0
Frequencyn/a


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