A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212021



Internal ID22359394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:154707561..154717460hg38UCSC Ensembl
Outerchr1:154680037..154689936hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg382359
hg192359
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264796, nssv14264803, nssv14264802, nssv14264798, nssv14264801, nssv14264795, nssv14264800, nssv14264799, nssv14264797
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesKCNN3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212021
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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