A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5445708



Internal ID224053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:121332624..121337615hg38UCSC Ensembl
chr2:122090200..122095191hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg384992
hg194992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16918401
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5445708
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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