A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236903



Internal ID22373729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:88137760..88146738hg38UCSC Ensembl
Outerchr16:88171366..88180344hg19UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg387894
hg197894
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260757, nssv14260842
SamplesNA19238, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3236903
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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