A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257520



Internal ID22271667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:29553873..29567974hg38UCSC Ensembl
Outerchr13:30128010..30142111hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg381296
hg191296
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3236657
Supporting Variants
SamplesNA19239
Known GenesSLC7A1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257520
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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