A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212368



Internal ID22359637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:31426743..31460799hg38UCSC Ensembl
Outerchr1:31899590..31933646hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg384489
hg194489
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262269, nssv14262273, nssv14262270, nssv14262271, nssv14262265, nssv14262266, nssv14262268
SamplesHG00512, NA19238, HG00731, HG00732, NA19240, HG00733, HG00513
Known GenesSERINC2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212368
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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