A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5447068



Internal ID225382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:5552704..5553138hg38UCSC Ensembl
chr2:5692836..5693270hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg38435
hg19435
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16909000
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5447068
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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