A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275751



Internal ID22190028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:27425940..27431380hg38UCSC Ensembl
Outerchr5:27426047..27431487hg19UCSC Ensembl
Cytoband5p14.1
Allele length
AssemblyAllele length
hg38890
hg19890
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226280
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275751
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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