A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257092



Internal ID22221236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:48880656..48975305hg38UCSC Ensembl
Outerchr13:49454792..49549441hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3894650
hg1994650
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223825
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257092
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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