A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227192



Internal ID22369761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:10528531..10546650hg38UCSC Ensembl
Outerchr2:10668657..10686776hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38865
hg19865
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4476n152
Supporting Variantsnssv14266826, nssv14266825, nssv14266823, nssv14266824
SamplesHG00512, NA19239, HG00731, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227192
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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