A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18202042



Internal ID20769083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:21989801..22012300hg38UCSC Ensembl
chr1:22316294..22338793hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3822500
hg1922500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6331107
Supporting Variants
Samples
Known GenesCELA3A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18202042
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00137


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