A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5397367



Internal ID176773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:135749649..135749700hg38UCSC Ensembl
chr2:136507219..136507270hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg38226
hg19226
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16918854
Samples
Known GenesUBXN4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5397367
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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