A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5406470



Internal ID185810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:196216664..196216715hg38UCSC Ensembl
chr2:197081388..197081439hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16923370
Samples
Known GenesHECW2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5406470
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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