A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254703



Internal ID22288311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:61187908..61223526hg38UCSC Ensembl
Outerchr11:60955380..60990998hg19UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg3818902
hg1918902
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3235792
Supporting Variants
SamplesNA19240
Known GenesPGA3, PGA4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254703
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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