A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6551757



Internal ID20924890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:45292251..45325447hg38UCSC Ensembl
chr20:43920891..43954087hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3833197
hg1933197
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18202891
Samples
Known GenesMATN4, RBPJL, SDC4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6551757
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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