A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1033171



Internal ID19122393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7392846..7775589hg38UCSC Ensembl
Innerchr8:7250368..7633111hg19UCSC Ensembl
Innerchr8:7237778..7670521hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38382744
hg19382744
hg18432744
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6908n100
Supporting Variantsnssv3679016
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, FAM90A10P, FAM90A7P, 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)nsv1033171
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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