A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1031948



Internal ID18774482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7477475..7598490hg38UCSC Ensembl
Innerchr8:7334997..7456012hg19UCSC Ensembl
Innerchr8:7322407..7443422hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38121016
hg19121016
hg18121016
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3680453, nssv3680452
Samples
Known GenesDEFB105A, 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)nsv1031948
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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