A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14352261



Internal ID22232435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:76034021..76034325hg38UCSC Ensembl
chrX:75253856..75254160hg19UCSC Ensembl
CytobandXq13.3
Allele length
AssemblyAllele length
hg38305
hg19305
Variant TypeCNV alu deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3557625
Supporting Variants
SamplesHG00733
Known Genes
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)nssv14352261
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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