A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034090



Internal ID19123312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7397514..7788793hg38UCSC Ensembl
Innerchr8:7255036..7646315hg19UCSC Ensembl
Innerchr8:7242446..7683725hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38391280
hg19391280
hg18441280
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6908n100
Supporting Variantsnssv3679667
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)nsv1034090
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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