A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3557905



Internal ID22426709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:140514521..140514521hg38UCSC Ensembl
chrX:139596686..139596686hg19UCSC Ensembl
CytobandXq27.1
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14455181, nssv14404446
SamplesNA19240, HG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3557905
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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