A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14353986



Internal ID22234025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:115474394..115474734hg38UCSC Ensembl
chr20:5943011..5943320hg19UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg38341
hg19310
Variant TypeCNV alu deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3273837
Supporting Variants
SamplesHG00733
Known GenesMCM8
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUYB8 mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14353986
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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