A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5451068



Internal ID229255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237926054..237929480hg38UCSC Ensembl
chr2:238834696..238838122hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg383427
hg193427
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16927059
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5451068
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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