A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017921



Internal ID19107138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12374760..12694109hg38UCSC Ensembl
Innerchr8:12232269..12551618hg19UCSC Ensembl
Innerchr8:12276640..12595989hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38319350
hg19319350
hg18319350
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7040n100
Supporting Variantsnssv3663538
Samples
Known GenesDEFB109P1, FAM66A, FAM86B2, FAM90A25P, LOC100506990, LOC649352, LOC729732
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1017921
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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