A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14353193



Internal ID22126416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:105947171..105947458hg38UCSC Ensembl
chrX:105191163..105191450hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg38288
hg19288
Variant TypeCNV alu deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3558549
Supporting Variants
SamplesHG00512
Known GenesNRK
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)nssv14353193
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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