A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263211



Internal ID22134130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:29002267..29027345hg38UCSC Ensembl
Outerchr19:29493174..29518252hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg38884
hg19884
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3243507
Supporting Variants
SamplesHG00513
Known GenesLOC100505835
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263211
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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