A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020317



Internal ID18762852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7477475..7930199hg38UCSC Ensembl
Innerchr8:7334997..7787721hg19UCSC Ensembl
Innerchr8:7322407..7825131hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38452725
hg19452725
hg18502725
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6911n100
Supporting Variantsnssv3680460, nssv3680461, nssv3753620
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)nsv1020317
Frequency
Sample Size29084
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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