A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5452925



Internal ID231067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:23668885..23670856hg38UCSC Ensembl
chr2:23891755..23893726hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg381972
hg191972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16910244
Samples
Known GenesKLHL29
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5452925
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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