A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3203093



Internal ID22352161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:143921919..143922017hg38UCSC Ensembl
chr2:144679486..144679584hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4847n152
Supporting Variantsnssv14294332, nssv14294331, nssv14294333
SamplesHG00512, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3203093
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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