A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254002



Internal ID22307537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:11238055..11279112hg38UCSC Ensembl
Outerchr11:11259602..11300659hg19UCSC Ensembl
Cytoband11p15.3
Allele length
AssemblyAllele length
hg386488
hg196488
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3245830
Supporting Variants
SamplesNA19240
Known GenesGALNT18
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254002
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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