A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5445492



Internal ID223839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:174579128..174580146hg38UCSC Ensembl
chr2:175443856..175444874hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg381019
hg191019
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16921108
Samples
Known GenesWIPF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5445492
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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