A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18212423



Internal ID20779463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:111996901..112063598hg38UCSC Ensembl
chr5:111332598..111399295hg19UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg3866698
hg1966698
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6397793
Supporting Variants
Samples
Known GenesNREP-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18212423
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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