A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1156502



Internal ID22086903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:50029947..50111093hg38UCSC Ensembl
Outerchr6:50020531..50112617hg38UCSC Ensembl
Innerchr6:49997660..50078806hg19UCSC Ensembl
Outerchr6:49988244..50080330hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3892087
hg1992087
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4018582
Samples
Known GenesDEFB110, DEFB112
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nsv1156502
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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