A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3198243



Internal ID22347991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:55077646..55091360hg38UCSC Ensembl
chrX:55104079..55117793hg19UCSC Ensembl
CytobandXp11.21
Allele length
AssemblyAllele length
hg3813715
hg1913715
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14351778, nssv14351776, nssv14351777, nssv14351779
SamplesHG00512, HG00731, HG00732, HG00733
Known GenesPAGE2, PAGE2B
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3198243
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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