A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256918



Internal ID22118130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:30096510..30115935hg38UCSC Ensembl
Outerchr13:30670647..30690072hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg3819426
hg1919426
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228979
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256918
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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