A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216820



Internal ID22362686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:69909372..69926909hg38UCSC Ensembl
Outerchr1:70375055..70392592hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg381201
hg191201
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262460, nssv14262464, nssv14262461, nssv14262462, nssv14262458, nssv14262459, nssv14262463
SamplesNA19238, NA19239, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesLRRC7, PIN1P1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216820
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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