A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199427



Internal ID22349011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:161464915..161496606hg38UCSC Ensembl
Outerchr2:162321426..162353117hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg3831692
hg1931692
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264330, nssv14264327, nssv14264326, nssv14264332, nssv14264329, nssv14264325, nssv14264328, nssv14264331
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199427
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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