A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6383817



Internal ID21041370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:68950068..69844927hg38UCSC Ensembl
chr4:69815786..70710645hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38894860
hg19894860
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5313n223
Supporting Variantsnssv18211654
Samples
Known GenesSULT1B1, SULT1E1, UGT2A1, UGT2A2, UGT2A3, UGT2B10, UGT2B11, UGT2B28, UGT2B4, UGT2B7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6383817
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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