A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5989504



Internal ID21898847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:53824415..53824496hg38UCSC Ensembl
chr2:54051552..54051633hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17533949
Samples
Known GenesGPR75-ASB3
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5989504
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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