A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4739899



Internal ID20515874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:53840547..53840616hg38UCSC Ensembl
chr2:54067684..54067753hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16277742
Samples
Known GenesGPR75-ASB3
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4739899
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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