A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230231



Internal ID22371814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:23880407..23885659hg38UCSC Ensembl
Outerchr1:24206897..24212149hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg382204
hg192204
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270764, nssv14270765, nssv14270763
SamplesHG00731, NA19240, HG00733
Known GenesCNR2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230231
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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