A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14385843



Internal ID22309992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:61867910..61868044hg38UCSC Ensembl
chr11:61635382..61635516hg19UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3172923
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a AluS mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14385843
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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