A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227312



Internal ID22369846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:36552311..36569613hg38UCSC Ensembl
Outerchr5:36552413..36569715hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg381402
hg191402
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276138, nssv14275813, nssv14276139, nssv14275809, nssv14276136, nssv14275810, nssv14275811, nssv14276137, nssv14275812
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227312
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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