A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219939



Internal ID22364797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:165882960..165892752hg38UCSC Ensembl
Outerchr1:165852197..165861989hg19UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg382577
hg192577
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv452n152
Supporting Variantsnssv14271164, nssv14271165, nssv14271166, nssv14271169, nssv14271167, nssv14271168
SamplesHG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesUCK2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219939
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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