A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5403882



Internal ID183241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237289764..237289815hg38UCSC Ensembl
chr2:238198407..238198458hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38229
hg19229
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16926414
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5403882
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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