A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276339



Internal ID22198635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:156183515..156236681hg38UCSC Ensembl
Outerchr5:155610525..155663691hg19UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg381505
hg191505
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225144
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276339
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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