A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1033559



Internal ID18776092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7397514..7545918hg38UCSC Ensembl
Innerchr8:7255036..7403440hg19UCSC Ensembl
Innerchr8:7242446..7390850hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38148405
hg19148405
hg18148405
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6932n100
Supporting Variantsnssv3755232, nssv3679664, nssv3755233
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, PRR23D1, PRR23D2, SPAG11B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1033559
Frequency
Sample Size29084
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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