A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3208488



Internal ID22356723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:25216516..25216974hg38UCSC Ensembl
chr2:25439385..25439843hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38459
hg19459
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14288920, nssv14288921, nssv14288918, nssv14288919
SamplesNA19239, HG00732, HG00733, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3208488
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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