A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1033969



Internal ID18776503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7417218..7930428hg38UCSC Ensembl
Innerchr8:7274740..7787950hg19UCSC Ensembl
Innerchr8:7262150..7825360hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38513211
hg19513211
hg18563211
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6911n100
Supporting Variantsnssv3680121, nssv3680122, nssv3756464
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)nsv1033969
Frequency
Sample Size29084
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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