A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256954



Internal ID22131950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:112275337..112343027hg38UCSC Ensembl
Outerchr13:112929651..112997341hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3867691
hg1967691
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215430
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256954
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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