A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256887



Internal ID22144853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:60707454..60717808hg38UCSC Ensembl
Outerchr13:61281588..61291942hg19UCSC Ensembl
Cytoband13q21.2
Allele length
AssemblyAllele length
hg3810355
hg1910355
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225236
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256887
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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