A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1016519



Internal ID18759054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7779763..7952372hg38UCSC Ensembl
Innerchr8:7637285..7809894hg19UCSC Ensembl
Innerchr8:7674695..7847304hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38172610
hg19172610
hg18172610
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6960n100
Supporting Variantsnssv3680893, nssv3680892
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, 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)nsv1016519
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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