A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5403428



Internal ID182788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:122834427..122834478hg38UCSC Ensembl
chr5:122170122..122170173hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16973433
Samples
Known GenesSNX2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5403428
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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