A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5440116



Internal ID218635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218294393..218429500hg38UCSC Ensembl
chr2:219159116..219294223hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38135108
hg19135108
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16928206
Samples
Known GenesC2orf62, CTDSP1, MIR26B, MIR6810, PNKD, SLC11A1, VIL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5440116
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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