A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14352302



Internal ID22232484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:78072378..78072708hg38UCSC Ensembl
chrX:77327875..77328205hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV alu deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3558051
Supporting Variants
SamplesHG00733
Known Genes
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)nssv14352302
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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