A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14444880



Internal ID22226502
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 StatusS
Merged Variantsnsv3230781
Supporting Variants
SamplesHG00733
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)nssv14444880
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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