A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215549



Internal ID22361845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:165882960..165893227hg38UCSC Ensembl
Outerchr1:165852197..165862464hg19UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg381270
hg191270
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv452n152
Supporting Variantsnssv14264362
SamplesNA19238
Known GenesUCK2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215549
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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