A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267805



Internal ID22320112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:49907879..49955634hg38UCSC Ensembl
Outerchr22:50301527..50349282hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg382256
hg192256
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3248897
Supporting Variants
SamplesNA19240
Known GenesALG12, CRELD2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267805
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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