A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3188158



Internal ID22340110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:88736196..88736521hg38UCSC Ensembl
chr5:88032013..88032338hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38326
hg19326
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7431n152
Supporting Variantsnssv14411463
SamplesNA19240
Known GenesMEF2C
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)nsv3188158
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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