A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16928200



Internal ID19497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218238797..218238872hg38UCSC Ensembl
chr2:219103520..219103595hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5443035
Supporting Variants
Samples
Known GenesARPC2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16928200
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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