A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1024589



Internal ID18767121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7392846..7914028hg38UCSC Ensembl
Innerchr8:7250368..7771550hg19UCSC Ensembl
Innerchr8:7237778..7808960hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38521183
hg19521183
hg18571183
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6935n100
Supporting Variantsnssv3679168, nssv3679169
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, 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)nsv1024589
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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