A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14354364



Internal ID22127160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:136877329..136880726hg38UCSC Ensembl
chrX:135959488..135962885hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg383398
hg193398
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3200628
Supporting Variants
SamplesHG00512
Known GenesRBMX, SNORD61
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14354364
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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