A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263718



Internal ID22120326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:33456012..33456244hg38UCSC Ensembl
Outerchr19:33946918..33947150hg19UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg38911
hg19911
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3244985
Supporting Variants
SamplesHG00512
Known GenesPEPD
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263718
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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