A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17534570



Internal ID21858925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:219541965..219542206hg38UCSC Ensembl
chr2:220406687..220406928hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38242
hg19242
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5987649
Supporting Variants
Samples
Known GenesCHPF
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17534570
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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