A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16923876



Internal ID16681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218142455..218226626hg38UCSC Ensembl
chr2:219007178..219091349hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3884172
hg1984172
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5441156
Supporting Variants
Samples
Known GenesARPC2, CXCR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16923876
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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