A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18214724



Internal ID20781764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:83283401..83286000hg38UCSC Ensembl
chr4:84204554..84207153hg19UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg382600
hg192600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6387138
Supporting Variants
Samples
Known GenesCOQ2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18214724
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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