A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3565738



Internal ID22434454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:110705431..110705431hg38UCSC Ensembl
chrX:109948659..109948659hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg38143
hg19143
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14353887, nssv14353888, nssv14353886, nssv14353889, nssv14353885, nssv14353890
SamplesHG00512, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesCHRDL1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3565738
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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