A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5399589



Internal ID178977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:190284922..190284973hg38UCSC Ensembl
chr2:191149648..191149699hg19UCSC Ensembl
Cytoband2q32.2
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 Variantsnssv16923485
Samples
Known GenesHIBCH
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5399589
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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