A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257100



Internal ID22316369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:49361741..49400490hg38UCSC Ensembl
Outerchr13:49935877..49974626hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3838750
hg1938750
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219098
Supporting Variants
SamplesNA19240
Known GenesCAB39L
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257100
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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