A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14351065



Internal ID22207455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:45589675..45590174hg38UCSC Ensembl
chrX:45448920..45449419hg19UCSC Ensembl
CytobandXp11.3
Allele length
AssemblyAllele length
hg38500
hg19500
Variant TypeCNV line1 deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3239928
Supporting Variants
SamplesHG00732
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a L1HS mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14351065
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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