A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5989904



Internal ID21899247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:74967711..75015896hg38UCSC Ensembl
chr2:75194838..75243023hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3848186
hg1948186
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17530541
Samples
Known GenesPOLE4
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5989904
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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