A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5409564



Internal ID188885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:160262229..160262280hg38UCSC Ensembl
chr2:161118740..161118791hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16926636
Samples
Known GenesLOC100505984
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5409564
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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