A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5449167



Internal ID227412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:24964453..24964832hg38UCSC Ensembl
chr2:25187322..25187701hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38380
hg19380
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16910589
Samples
Known GenesDNAJC27
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5449167
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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