A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267065



Internal ID22303180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:38902307..38924273hg38UCSC Ensembl
Outerchr21:40274231..40296197hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg381036
hg191036
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3231480
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267065
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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