A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14391937



Internal ID22307442
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 StatusS
Merged Variantsnsv3245938
Supporting Variants
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)nssv14391937
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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