A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227368



Internal ID22369888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:5158750..5173292hg38UCSC Ensembl
Outerchr1:5218810..5233352hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38749
hg19749
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266496, nssv14266494, nssv14266495, nssv14266493
SamplesHG00512, NA19239, HG00731, HG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227368
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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