A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263378



Internal ID22202634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:3153051..3179182hg38UCSC Ensembl
Outerchr19:3153049..3179180hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3826132
hg1926132
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213953
Supporting Variants
SamplesHG00732
Known GenesGNA15, S1PR4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263378
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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