A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5399667



Internal ID179055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:134480586..134480637hg38UCSC Ensembl
chr2:135238157..135238208hg19UCSC Ensembl
Cytoband2q21.3
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 Variantsnssv16924219
Samples
Known GenesTMEM163
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5399667
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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