A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263605



Internal ID22279573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:47216822..47227186hg38UCSC Ensembl
Outerchr19:47720079..47730443hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38852
hg19852
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3240887
Supporting Variants
SamplesNA19239
Known GenesBBC3, MIR3190, MIR3191
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263605
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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