A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5440354



Internal ID218863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:75550508..75586101hg38UCSC Ensembl
chr2:75777634..75813227hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3835594
hg1935594
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16916186
Samples
Known GenesEVA1A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5440354
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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