A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258287



Internal ID22132386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:112853674..112877339hg38UCSC Ensembl
Outerchr13:113507988..113531653hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg381229
hg191229
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3232810
Supporting Variants
SamplesHG00513
Known GenesATP11A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258287
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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