A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226615



Internal ID22369355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:153214642..153268701hg38UCSC Ensembl
Outerchr1:153187118..153241177hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38876
hg19876
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv426n152
Supporting Variantsnssv14263803, nssv14263805, nssv14263804, nssv14263802, nssv14263806, nssv14263800, nssv14263801
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733
Known GenesLOR, PRR9
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226615
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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