A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256860



Internal ID22200621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113893700..113906639hg38UCSC Ensembl
Outerchr13:114596673..114609612hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3812940
hg1912940
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213609
Supporting Variants
SamplesHG00732
Known GenesLINC00452
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256860
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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