A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3557789



Internal ID22426594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:47324444..47324444hg38UCSC Ensembl
chrX:47183843..47183843hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38163
hg19163
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14464573
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3557789
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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