A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034806



Internal ID18777339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7425003..7535423hg38UCSC Ensembl
Innerchr8:7282525..7392945hg19UCSC Ensembl
Innerchr8:7269935..7380355hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38110421
hg19110421
hg18110421
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6941n100
Supporting Variantsnssv3680134, nssv3680135
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, SPAG11B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1034806
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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