A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3680425



Internal ID18632020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7471679..7981009hg38UCSC Ensembl
Innerchr8:7329201..7838531hg19UCSC Ensembl
Innerchr8:7316611..7875941hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38509331
hg19509331
hg18559331
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1034290
Supporting Variants
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, FAM66E, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L3, USP17L8, ZNF705B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3680425
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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