A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14300700



Internal ID22264749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:38510619..38510926hg38UCSC Ensembl
chr20:37139262..37139569hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg38308
hg19308
Variant TypeCNV alu deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3181948
Supporting Variants
SamplesNA19238
Known GenesRALGAPB
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUYA5 mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14300700
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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