A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5440939



Internal ID219431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:44624774..44677804hg38UCSC Ensembl
chr2:44851913..44904943hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3853031
hg1953031
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16912321
Samples
Known GenesCAMKMT
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5440939
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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