A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3245938



Internal ID22376280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:154831507..154831781hg38UCSC Ensembl
chrX:154059782..154060056hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV mobile element deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14391937
SamplesNA19240
Known GenesSMIM9
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3245938
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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