A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227761



Internal ID22370156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:109757789..109783336hg38UCSC Ensembl
Outerchr13:110410136..110435683hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3825548
hg1925548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256840, nssv14256844, nssv14256845, nssv14256842, nssv14256841, nssv14256843
SamplesHG00512, NA19238, HG00731, HG00733, HG00513, HG00514
Known GenesIRS2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227761
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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