A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264187



Internal ID22223468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:34385975..34399429hg38UCSC Ensembl
Outerchr19:34876880..34890334hg19UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg3817069
hg1917069
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3243394
Supporting Variants
SamplesHG00733
Known GenesGPI
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264187
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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