A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3203057



Internal ID22352131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:2721111..2721179hg38UCSC Ensembl
chr2:2724883..2724951hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4432n152
Supporting Variantsnssv14289146, nssv14289147, nssv14289148
SamplesHG00732, NA19240, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3203057
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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