A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5452687



Internal ID230833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:85577131..85578543hg38UCSC Ensembl
chr2:85804254..85805666hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg381413
hg191413
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16917359
Samples
Known GenesVAMP8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5452687
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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