A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275683



Internal ID22125011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:7345118..7375051hg38UCSC Ensembl
Outerchr5:7345231..7375164hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg381476
hg191476
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222589
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275683
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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