A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5451523



Internal ID229703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:25031038..25037855hg38UCSC Ensembl
chr2:25253907..25260724hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg386818
hg196818
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16911229
Samples
Known GenesDNAJC27-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5451523
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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