A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230781



Internal ID22372030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:130532467..130532558hg38UCSC Ensembl
chr11:130402362..130402453hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV mobile element deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14444880, nssv14419208
SamplesHG00733, HG00514
Known Genes
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)nsv3230781
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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