A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257373



Internal ID22118276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113320452..113343372hg38UCSC Ensembl
Outerchr13:113974767..113997687hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38593
hg19593
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3230720
Supporting Variants
SamplesHG00512
Known GenesGRTP1, LAMP1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257373
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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