A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5399795



Internal ID179181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:23453150..23453201hg38UCSC Ensembl
chr2:23676021..23676072hg19UCSC Ensembl
Cytoband2p24.1
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 Variantsnssv16910232
Samples
Known GenesKLHL29
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5399795
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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