A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3679545



Internal ID18631140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7392846..7981039hg38UCSC Ensembl
Innerchr8:7250368..7838561hg19UCSC Ensembl
Innerchr8:7237778..7875971hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38588194
hg19588194
hg18638194
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1032340
Supporting Variants
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, DEFB4B, 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)nssv3679545
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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