A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3249309



Internal ID22377241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:79469358..79469412hg38UCSC Ensembl
chrX:78724855..78724909hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14413025
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a L1P mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3249309
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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