A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221197



Internal ID22365662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:3458139..3504220hg38UCSC Ensembl
Outerchr1:3374703..3420784hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg385067
hg195067
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv57n152
Supporting Variantsnssv14271256, nssv14271255, nssv14271257, nssv14271258
SamplesHG00512, HG00731, HG00732, HG00733
Known GenesARHGEF16, MEGF6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221197
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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