A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228919



Internal ID22370942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:11577656..11596295hg38UCSC Ensembl
Outerchr16:11671512..11690151hg19UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg3818640
hg1918640
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258677, nssv14258684, nssv14258680, nssv14258682, nssv14258679, nssv14258678, nssv14258683, nssv14258681
SamplesHG00512, NA19238, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesLITAF
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228919
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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