A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4739851



Internal ID20515827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:55650841..55650982hg38UCSC Ensembl
chr2:55877976..55878117hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38142
hg19142
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16294639
Samples
Known GenesPNPT1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4739851
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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