A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254709



Internal ID22220400
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3237260
Supporting Variants
SamplesHG00733
Known GenesINPPL1, PHOX2A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254709
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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