A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14350948



Internal ID22230973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:2776262..2890633hg38UCSC Ensembl
chrX:2694303..2808674hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38114372
hg19114372
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3526188
Supporting Variants
SamplesHG00733
Known GenesGYG2, XG
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14350948
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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