A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5439726



Internal ID218258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:84947286..84948660hg38UCSC Ensembl
chr2:85174409..85175783hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg381375
hg191375
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16917305
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5439726
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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