A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219503



Internal ID22364509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:68447740..68454361hg38UCSC Ensembl
Outerchr2:68674872..68681493hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg381651
hg191651
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265312, nssv14267354, nssv14265309, nssv14265311, nssv14265308, nssv14267356, nssv14265310, nssv14267355
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)nsv3219503
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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