A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1027825



Internal ID18770356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7465919..7598490hg38UCSC Ensembl
Innerchr8:7323441..7456012hg19UCSC Ensembl
Innerchr8:7310851..7443422hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38132572
hg19132572
hg18132572
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6943n100
Supporting Variantsnssv3680381
Samples
Known GenesDEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, FAM90A7P, PRR23D1, PRR23D2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1027825
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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