A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221111



Internal ID22365606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:101228957..101252525hg38UCSC Ensembl
Outerchr13:101881308..101904876hg19UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg3823569
hg1923569
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2406n152
Supporting Variantsnssv14256913, nssv14256911, nssv14256914, nssv14256912
SamplesHG00731, NA19240, HG00733, HG00513
Known GenesNALCN
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221111
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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