A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3540932



Internal ID22410053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:108773126..108773126hg38UCSC Ensembl
chrX:108016356..108016356hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg3810267
hg1910267
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14429900
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3540932
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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