A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3190530



Internal ID22341383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:43063063..43063141hg38UCSC Ensembl
chr2:43290201..43290279hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14292585, nssv14292582, nssv14292584, nssv14292583
SamplesNA19239, HG00731, HG00732, HG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3190530
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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