A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5450085



Internal ID228304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:28895370..28895579hg38UCSC Ensembl
chr2:29118236..29118445hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg38210
hg19210
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16911371
Samples
Known GenesWDR43
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5450085
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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