A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267881



Internal ID22274186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:25770881..25816992hg38UCSC Ensembl
Outerchr21:27143192..27189303hg19UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg3846112
hg1946112
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217959
Supporting Variants
SamplesNA19239
Known GenesGABPA
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267881
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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