A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246870



Internal ID22376553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:30218143..30226547hg38UCSC Ensembl
Outerchr16:30229464..30237868hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38102014
hg19102014
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259837, nssv14259836, nssv14259754
SamplesHG00512, NA19238, HG00731
Known GenesLOC613037
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3246870
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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