A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1024244



Internal ID18766777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7433385..7529664hg38UCSC Ensembl
Innerchr8:7290907..7387186hg19UCSC Ensembl
Innerchr8:7278317..7374596hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3896280
hg1996280
hg1896280
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6942n100
Supporting Variantsnssv3680172, nssv3756478
Samples
Known GenesDEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, SPAG11B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1024244
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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