A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14323915



Internal ID22130545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:122938652..122938975hg38UCSC Ensembl
chr5:122274347..122274670hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV alu deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3189384
Supporting Variants
SamplesHG00513
Known GenesSNX24
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUY mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14323915
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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