A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14350385



Internal ID22152761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:42653036..42654617hg38UCSC Ensembl
chrX:42512288..42513869hg19UCSC Ensembl
CytobandXp11.3
Allele length
AssemblyAllele length
hg381582
hg191582
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3202519
Supporting Variants
SamplesHG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14350385
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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