A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3524665



Internal ID22394100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:138650777..138650777hg38UCSC Ensembl
chr7:138335522..138335522hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg381271
hg191271
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14428227, nssv14402614, nssv14457282
SamplesNA19240, HG00733, HG00514
Known GenesSVOPL
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluS mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3524665
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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