A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5442709



Internal ID221129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:64115004..64288383hg38UCSC Ensembl
chr2:64342138..64515517hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg38173380
hg19173380
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16914986
Samples
Known GenesLINC00309, PELI1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5442709
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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