A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264027



Internal ID22273223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:16052423..16078097hg38UCSC Ensembl
Outerchr19:16163233..16188907hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg381792
hg191792
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3244646
Supporting Variants
SamplesNA19239
Known GenesTPM4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264027
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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