A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4767283



Internal ID20543143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:200773357..200773357hg38UCSC Ensembl
chr2:201638080..201638080hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38948
hg19948
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16272878
Samples
Known GenesAOX2P
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4767283
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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