A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263314



Internal ID22120172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:125039..174092hg38UCSC Ensembl
Outerchr19:125039..174092hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3849054
hg1949054
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211421
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263314
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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