A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196733



Internal ID22346698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:136978791..136981300hg38UCSC Ensembl
chrX:136060950..136063459hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg382510
hg192510
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14354365
SamplesHG00513
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3196733
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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