A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257616



Internal ID22263618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:88663304..88715856hg38UCSC Ensembl
Outerchr13:89315558..89368110hg19UCSC Ensembl
Cytoband13q31.2
Allele length
AssemblyAllele length
hg3852553
hg1952553
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214371
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257616
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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