A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14353039



Internal ID22140372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:94145915..94149721hg38UCSC Ensembl
chrX:93400914..93404720hg19UCSC Ensembl
CytobandXq21.32
Allele length
AssemblyAllele length
hg383807
hg193807
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3207787
Supporting Variants
SamplesHG00513
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14353039
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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