A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242699



Internal ID22375349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:132680584..132680654hg38UCSC Ensembl
chr5:132016276..132016346hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV mobile element deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14436831, nssv14410675
SamplesNA19240, HG00514
Known GenesIL4
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3242699
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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