A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225847



Internal ID22368855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:111342896..111360197hg38UCSC Ensembl
Outerchr1:111885518..111902819hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg381972
hg191972
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263075, nssv14263077, nssv14263076
SamplesNA19238, NA19239, NA19240
Known GenesPIFO
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225847
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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