A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4765599



Internal ID20541459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:53721757..53721757hg38UCSC Ensembl
chr2:53948894..53948894hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16291924
Samples
Known GenesASB3, GPR75-ASB3
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4765599
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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