A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3532537



Internal ID22401863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:116010268..116010268hg38UCSC Ensembl
chrX:115126601..115126601hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg3814849
hg1914849
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14404422
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3532537
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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