A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6505973



Internal ID20879248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:55808201..55812300hg38UCSC Ensembl
chr16:55842113..55846212hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg384100
hg194100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2886n223
Supporting Variantsnssv18191494
Samples
Known GenesCES1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6505973
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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