A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266403



Internal ID22287784
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217140
Supporting Variants
SamplesNA19240
Known GenesPRKCZ
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266403
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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