A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14403297



Internal ID22299558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:130148921..130148921hg38UCSC Ensembl
chrX:129282896..129282896hg19UCSC Ensembl
CytobandXq26.1
Allele length
AssemblyAllele length
hg38116
hg19116
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3519904
Supporting Variants
SamplesNA19240
Known GenesAIFM1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluS mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14403297
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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