A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5443462



Internal ID221859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:71247181..71267187hg38UCSC Ensembl
chr2:71474311..71494317hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg3820007
hg1920007
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16916072
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5443462
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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