A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257444



Internal ID22200794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:109764457..109772264hg38UCSC Ensembl
Outerchr13:110416804..110424611hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg387808
hg197808
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223216
Supporting Variants
SamplesHG00732
Known GenesIRS2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257444
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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