A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18072842



Internal ID20639882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:45856280..45856588hg38UCSC Ensembl
chr21:47276194..47276502hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38309
hg19309
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6540374
Supporting Variants
Samples
Known GenesPCBP3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18072842
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00047


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