A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3755034



Internal ID18706629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7392846..7535076hg38UCSC Ensembl
Innerchr8:7250368..7392598hg19UCSC Ensembl
Innerchr8:7237778..7380008hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38142231
hg19142231
hg18142231
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1024098
Supporting Variants
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, SPAG11B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3755034
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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