A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5899521



Internal ID22674651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218683599..218683651hg38UCSC Ensembl
chr2:219548322..219548374hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17407698
Samples
Known GenesSTK36
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5899521
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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