A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3192144



Internal ID22342767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:28466613..28491477hg38UCSC Ensembl
Outerchr2:28689480..28714344hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg3824865
hg1924865
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264859, nssv14264864, nssv14264863, nssv14264861, nssv14264862, nssv14264865, nssv14264860
SamplesHG00512, NA19238, NA19239, HG00731, NA19240, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3192144
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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