A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18206973



Internal ID20774013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:68173628..68205934hg38UCSC Ensembl
chr2:68400760..68433066hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg3832307
hg1932307
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6349627
Supporting Variants
Samples
Known GenesPNO1, PPP3R1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18206973
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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