A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220867



Internal ID22365442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:30731168..30737797hg38UCSC Ensembl
Outerchr1:31204015..31210644hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg382729
hg192729
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262250, nssv14262248, nssv14261816, nssv14261324, nssv14262249, nssv14262251, nssv14261814, nssv14262247, nssv14261815
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesLAPTM5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220867
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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