A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269206



Internal ID22222397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:32761381..32770488hg38UCSC Ensembl
Outerchr22:33157367..33166474hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3871467
hg1971467
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3242054
Supporting Variants
SamplesHG00733
Known GenesSYN3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269206
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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