A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276155



Internal ID22190767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:52512642..52541343hg38UCSC Ensembl
Outerchr5:51808476..51837177hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg382661
hg192661
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224405
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276155
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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