A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267863



Internal ID22259099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44197700..44204893hg38UCSC Ensembl
Outerchr21:45617583..45624776hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg387194
hg197194
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220557
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267863
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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