A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16928202



Internal ID19498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218242754..218242805hg38UCSC Ensembl
chr2:219107477..219107528hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5409676
Supporting Variants
Samples
Known GenesARPC2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16928202
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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