A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3531950



Internal ID22401293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:133081335..133081335hg38UCSC Ensembl
chrX:132215363..132215363hg19UCSC Ensembl
CytobandXq26.2
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14458558
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3531950
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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