A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16910241



Internal ID7600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:23596201..23600618hg38UCSC Ensembl
chr2:23819071..23823488hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg384418
hg194418
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5445952
Supporting Variants
Samples
Known GenesKLHL29
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16910241
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001561


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