A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210800



Internal ID22358583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:2104879..2126707hg38UCSC Ensembl
Outerchr1:2036318..2058146hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg383480
hg193480
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv29n152
Supporting Variantsnssv14273948, nssv14273949
SamplesHG00731, HG00733
Known GenesPRKCZ
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210800
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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