A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034658



Internal ID18777191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7872528..7925628hg38UCSC Ensembl
Innerchr8:7730050..7783150hg19UCSC Ensembl
Innerchr8:7767460..7820560hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3853101
hg1953101
hg1853101
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6968n100
Supporting Variantsnssv3680935
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)nsv1034658
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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