A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5990340



Internal ID21899683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:88729728..88732768hg38UCSC Ensembl
chr2:89029246..89032285hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg383041
hg193040
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17529784
Samples
Known GenesRPIA
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5990340
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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