A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3238689



Internal ID22374229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:112856013..112868754hg38UCSC Ensembl
Outerchr13:113510327..113523068hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38479
hg19479
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257586, nssv14257369
SamplesHG00512, NA19239
Known GenesATP11A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3238689
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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