A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212855



Internal ID22359979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:41525894..41546389hg38UCSC Ensembl
Outerchr1:41991565..42012060hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg381982
hg191982
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261776, nssv14261774, nssv14261773, nssv14261775, nssv14261777
SamplesNA19238, NA19239, HG00731, HG00732, HG00733
Known GenesHIVEP3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212855
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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