A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263165



Internal ID22252990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:19115643..19116488hg38UCSC Ensembl
Outerchr19:19226452..19227297hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38777
hg19777
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3237899
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263165
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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