A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3189253



Internal ID22340678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:19533692..19534004hg38UCSC Ensembl
chr11:19555239..19555551hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1285n152
Supporting Variantsnssv14379029
SamplesNA19240
Known GenesNAV2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a AluY mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3189253
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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