A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269146



Internal ID22122054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:50343517..50360991hg38UCSC Ensembl
Outerchr22:50781946..50799420hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg381020
hg191020
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3244706
Supporting Variants
SamplesHG00512
Known GenesPPP6R2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269146
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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