A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5438581



Internal ID217141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:230878161..230878243hg38UCSC Ensembl
chr2:231742876..231742958hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16925791
Samples
Known GenesITM2C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5438581
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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