A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257470



Internal ID22255848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113343372..113371387hg38UCSC Ensembl
Outerchr13:113997687..114025702hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38153
hg19153
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3237401
Supporting Variants
SamplesNA19238
Known GenesGRTP1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257470
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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