A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5437048



Internal ID215648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:144451402..144452202hg38UCSC Ensembl
chr2:145208969..145209769hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg38801
hg19801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16920426
Samples
Known GenesZEB2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5437048
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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