A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256929



Internal ID22118148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:62729022..62803525hg38UCSC Ensembl
Outerchr13:63303155..63377658hg19UCSC Ensembl
Cytoband13q21.31
Allele length
AssemblyAllele length
hg3874504
hg1974504
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210721
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256929
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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