A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3275808



Internal ID22377774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:36145328..36145455hg38UCSC Ensembl
chr11:36166878..36167005hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV sva deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14416220, nssv14444298
SamplesHG00733, HG00514
Known GenesLDLRAD3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a SVA mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3275808
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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