A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257626



Internal ID22258918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:91245043..91267272hg38UCSC Ensembl
Outerchr13:91897297..91919526hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg3822230
hg1922230
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220727
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257626
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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