A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3530234



Internal ID22385488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:5043166..5043166hg38UCSC Ensembl
chrX:4961207..4961207hg19UCSC Ensembl
CytobandXp22.32
Allele length
AssemblyAllele length
hg389634
hg199634
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14403913, nssv14456074, nssv14429033
SamplesNA19240, HG00733, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3530234
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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