A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18206288



Internal ID20773328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:55683501..55712900hg38UCSC Ensembl
chr2:55910636..55940035hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3829400
hg1929400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6337250
Supporting Variants
Samples
Known GenesPNPT1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18206288
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00927


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