A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5449857



Internal ID228082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:180082542..180082593hg38UCSC Ensembl
chr2:180947269..180947320hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16922619
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5449857
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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