A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268571



Internal ID22135872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:29112995..29137451hg38UCSC Ensembl
Outerchr22:29508983..29533439hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg382902
hg192902
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3245413
Supporting Variants
SamplesHG00513
Known GenesKREMEN1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268571
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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