A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256938



Internal ID22131926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:29378497..29382332hg38UCSC Ensembl
Outerchr13:29952634..29956469hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg383836
hg193836
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216387
Supporting Variants
SamplesHG00513
Known GenesMTUS2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256938
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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