A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223649



Internal ID22367348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:134424747..134450559hg38UCSC Ensembl
Outerchr5:133760438..133786250hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg381831
hg191831
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276876, nssv14276874, nssv14276877, nssv14276878, nssv14276872, nssv14276875, nssv14276871, nssv14276873
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00514
Known GenesLOC102546229
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223649
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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