A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5405244



Internal ID184588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:160211793..160211844hg38UCSC Ensembl
chr2:161068304..161068355hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16926635
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5405244
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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