A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3562765



Internal ID22431511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:139165582..139165582hg38UCSC Ensembl
chr2:139923152..139923152hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14294233
SamplesHG00513
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3562765
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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