A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222270



Internal ID22366394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:116107457..116122622hg38UCSC Ensembl
Outerchr5:115443154..115458319hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg386970
hg196970
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276816, nssv14276815
SamplesNA19238, HG00732
Known GenesCOMMD10
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222270
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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