A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263221



Internal ID22185434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:29500068..29520583hg38UCSC Ensembl
Outerchr19:29990975..30011490hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg382314
hg192314
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3234293
Supporting Variants
SamplesHG00731
Known GenesLOC284395
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263221
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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