A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269189



Internal ID22188400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:43320530..43343888hg38UCSC Ensembl
Outerchr22:43716536..43739894hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38829
hg19829
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3236128
Supporting Variants
SamplesHG00731
Known GenesSCUBE1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269189
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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