A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5543854



Internal ID318073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:138739393..138739393hg38UCSC Ensembl
chr2:139496963..139496963hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg38207
hg19207
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16924317
Samples
Known GenesNXPH2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5543854
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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