A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5440738



Internal ID219239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:114101733..114101793hg38UCSC Ensembl
chr2:114859310..114859370hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16919724
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5440738
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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