A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5406492



Internal ID185832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:70286436..70286487hg38UCSC Ensembl
chr2:70513568..70513619hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16914448
Samples
Known GenesSNRPG
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5406492
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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