A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1027832



Internal ID18770363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7872528..7919637hg38UCSC Ensembl
Innerchr8:7730050..7777159hg19UCSC Ensembl
Innerchr8:7767460..7814569hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3847110
hg1947110
hg1847110
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6967n100
Supporting Variantsnssv3680933, nssv3680931, nssv3680934, nssv3680932
Samples
Known GenesDEFB103A, DEFB103B, DEFB4A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1027832
Frequency
Sample Size29084
Observed Gain2
Observed Loss2
Observed Complex0
Frequencyn/a


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