A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1029741



Internal ID19118960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7392846..7783985hg38UCSC Ensembl
Innerchr8:7250368..7641507hg19UCSC Ensembl
Innerchr8:7237778..7678917hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38391140
hg19391140
hg18441140
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6908n100
Supporting Variantsnssv3679025
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)nsv1029741
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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