A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1033030



Internal ID18775564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7880901..7919637hg38UCSC Ensembl
Innerchr8:7738423..7777159hg19UCSC Ensembl
Innerchr8:7775833..7814569hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3838737
hg1938737
hg1838737
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6967n100
Supporting Variantsnssv3680958, nssv3680959, nssv3680961, nssv3680963, nssv3680960, nssv3680964, nssv3680962
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)nsv1033030
Frequency
Sample Size29084
Observed Gain2
Observed Loss5
Observed Complex0
Frequencyn/a


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