A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3202519



Internal ID22351674
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14350385, nssv14350387, nssv14350386, nssv14350388, nssv14350384, nssv14350383, nssv14350389
SamplesHG00512, NA19238, NA19239, HG00731, NA19240, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3202519
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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