A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217201



Internal ID22362937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:23029680..23053871hg38UCSC Ensembl
Outerchr16:23041001..23065192hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg3824192
hg1924192
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258698, nssv14258699, nssv14258695, nssv14258696, nssv14258701, nssv14258700, nssv14258697, nssv14258694
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217201
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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