A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3240413



Internal ID22374699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:29105002..29105101hg38UCSC Ensembl
chr11:29126549..29126648hg19UCSC Ensembl
Cytoband11p14.1
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14391087
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsDeletion variant involving MER satellite DNA
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3240413
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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