A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5450065



Internal ID228284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:240952829..240953578hg38UCSC Ensembl
chr2:241892246..241892995hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38750
hg19750
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16927145
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5450065
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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