A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3231480



Internal ID22372246
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267060, nssv14267059, nssv14267065, nssv14267061, nssv14267062, nssv14267064, nssv14267063
SamplesHG00512, NA19238, NA19239, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3231480
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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