A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268785



Internal ID22223232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:5558988..5579477hg38UCSC Ensembl
Outerchr7_gl000195_random:55765..81366hg19UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg384932
hg194932
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3245055
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268785
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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