A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18071565



Internal ID20638605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:41930001..41934500hg38UCSC Ensembl
chr21:43350110..43354609hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg384500
hg194500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6540586
Supporting Variants
Samples
Known GenesC2CD2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18071565
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.04824


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