A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3240150



Internal ID22374615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:21209296..21223018hg38UCSC Ensembl
Outerchr16:21220617..21234339hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg384385
hg194385
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259195, nssv14259199, nssv14259196, nssv14259202, nssv14259198, nssv14259200, nssv14259201, nssv14259197
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesZP2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3240150
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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