A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17523260



Internal ID21847619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:48417454..48417454hg38UCSC Ensembl
chr2:48644593..48644593hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg383203
hg193203
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6042198
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17523260
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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