A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17725878



Internal ID149544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:55674879..55756077hg38UCSC Ensembl
chr2:55902014..55983212hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3881199
hg1981199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5450083
Supporting Variants
Samples
Known GenesPNPT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17725878
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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