A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3680371



Internal ID18631966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7457151..7930428hg38UCSC Ensembl
Innerchr8:7314673..7787950hg19UCSC Ensembl
Innerchr8:7302083..7825360hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38473278
hg19473278
hg18523278
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1027154
Supporting Variants
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B, ZNF705B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3680371
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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