A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18211973



Internal ID20779013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:119085985..119196843hg38UCSC Ensembl
chr4:120007140..120117998hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg38110859
hg19110859
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6380230
Supporting Variants
Samples
Known GenesMYOZ2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18211973
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00033


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