A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1021427



Internal ID18763961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12039668..12505127hg38UCSC Ensembl
Innerchr8:11897177..12362636hg19UCSC Ensembl
Innerchr8:11934586..12407007hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38465460
hg19465460
hg18472422
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7015n100
Supporting Variantsnssv3681758
Samples
Known GenesDEFB109P1, DEFB130, FAM66A, FAM66D, FAM86B1, FAM86B2, FAM90A25P, FAM90A2P, LOC100133267, LOC100506990, LOC392196, LOC649352, USP17L2, USP17L7, ZNF705D
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1021427
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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