A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217140



Internal ID22362893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:2086753..2127068hg38UCSC Ensembl
Outerchr1:2018192..2058507hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg382116
hg192116
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266401, nssv14266403, nssv14266402
SamplesHG00512, NA19239, NA19240
Known GenesPRKCZ
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217140
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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