A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267864



Internal ID22258521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:46233777..46243728hg38UCSC Ensembl
Outerchr21:47653691..47663642hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg389952
hg199952
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225489
Supporting Variants
SamplesNA19238
Known GenesMCM3AP, MCM3AP-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267864
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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