A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6047798



Internal ID21957031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:48502400..48502400hg38UCSC Ensembl
chr2:48729539..48729539hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38287
hg19287
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17524487
Samples
Known GenesPPP1R21
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6047798
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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