A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268498



Internal ID22121872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:19427795..19466950hg38UCSC Ensembl
Outerchr22:19415318..19454473hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg382272
hg192272
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3240635
Supporting Variants
SamplesHG00512
Known GenesC22orf39, HIRA, MRPL40, UFD1L
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268498
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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