A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261832



Internal ID22264196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:21198040..21243562hg38UCSC Ensembl
Outerchr18:18778001..18823523hg19UCSC Ensembl
Cytoband18q11.1
Allele length
AssemblyAllele length
hg382123
hg192123
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3243830
Supporting Variants
SamplesNA19238
Known GenesGREB1L
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261832
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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