A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3173909



Internal ID22332540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:102601116..102601432hg38UCSC Ensembl
chr11:102471847..102472163hg19UCSC Ensembl
Cytoband11q22.2
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1542n152
Supporting Variantsnssv14444697, nssv14419399
SamplesHG00733, HG00514
Known GenesMMP20
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)nsv3173909
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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