A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216052



Internal ID22362177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:39348299..39372855hg38UCSC Ensembl
Outerchr13:39922436..39946992hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg3824557
hg1924557
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257062, nssv14257065, nssv14257063, nssv14257061, nssv14257066, nssv14257064
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733
Known GenesLHFP
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216052
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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