A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18208993



Internal ID20776033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:24042606..24059792hg38UCSC Ensembl
chr2:24265476..24282662hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg3817187
hg1917187
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6342277
Supporting Variants
Samples
Known GenesC2orf44, FKBP1B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18208993
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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