A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5439840



Internal ID218369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:131139591..131139768hg38UCSC Ensembl
chr2:131897164..131897341hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38178
hg19178
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16919217
Samples
Known GenesPLEKHB2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5439840
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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