A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1023539



Internal ID18766072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7364449..7872619hg38UCSC Ensembl
Innerchr8:7221971..7730141hg19UCSC Ensembl
Innerchr8:7209381..7767551hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38508171
hg19508171
hg18558171
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6909n100
Supporting Variantsnssv3754995
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1023539
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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