A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18215650



Internal ID20782690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:208674..346012hg38UCSC Ensembl
chr5:208789..346127hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38137339
hg19137339
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6386316
Supporting Variants
Samples
Known GenesAHRR, CCDC127, LOC102467073, PDCD6, SDHA
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18215650
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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