A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213283



Internal ID22360275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:37470273..37516180hg38UCSC Ensembl
Outerchr13:38044410..38090317hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg3845908
hg1945908
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257454, nssv14257453, nssv14257455
SamplesHG00731, HG00732, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213283
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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