A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196479



Internal ID22346478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:22135242..22140263hg38UCSC Ensembl
chrX:22153359..22158380hg19UCSC Ensembl
CytobandXp22.11
Allele length
AssemblyAllele length
hg385022
hg195022
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14350024, nssv14350023, nssv14350025
SamplesHG00731, HG00732, HG00733
Known GenesPHEX
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3196479
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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