A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264157



Internal ID22257576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:29618216..29625957hg38UCSC Ensembl
Outerchr19:30109123..30116864hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg38893
hg19893
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3236884
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264157
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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