A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3237577



Internal ID22373910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:48907305..48924582hg38UCSC Ensembl
Outerchr13:49481441..49498718hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg381233
hg191233
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256699, nssv14256703, nssv14256702, nssv14256697, nssv14256701, nssv14256704, nssv14256705, nssv14256700, nssv14256698
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3237577
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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