A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16925997



Internal ID18078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:219294648..219294736hg38UCSC Ensembl
chr2:220159370..220159458hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5450633
Supporting Variants
Samples
Known GenesPTPRN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16925997
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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