A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18204103



Internal ID20771143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42953501..43086500hg38UCSC Ensembl
chr21:44373611..44506610hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38133000
hg19133000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6544182
Supporting Variants
Samples
Known GenesCBS, PKNOX1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18204103
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00051


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