A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3558549



Internal ID22427352
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10228n152
Supporting Variantsnssv14353195, nssv14353197, nssv14353198, nssv14353199, nssv14353194, nssv14353193, nssv14353196
SamplesHG00512, NA19238, NA19239, HG00731, NA19240, HG00733, HG00513
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)nsv3558549
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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