A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3237260



Internal ID22373831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:72234755..72289488hg38UCSC Ensembl
Outerchr11:71945799..72000532hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg381573
hg191573
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254709, nssv14254710
SamplesNA19239, HG00733
Known GenesINPPL1, PHOX2A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3237260
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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