A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5406882



Internal ID186219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237085636..237085687hg38UCSC Ensembl
chr2:237994279..237994330hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16926402
Samples
Known GenesCOPS8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5406882
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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