A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5441994



Internal ID220439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:55407114..55409055hg38UCSC Ensembl
chr2:55634250..55636191hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg381942
hg191942
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16912822
Samples
Known GenesCCDC88A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5441994
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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