A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1026129



Internal ID18768661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7540351..7925628hg38UCSC Ensembl
Innerchr8:7397873..7783150hg19UCSC Ensembl
Innerchr8:7385283..7820560hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38385278
hg19385278
hg18435278
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6948n100
Supporting Variantsnssv3680724, nssv3680723
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1026129
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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