A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3522697



Internal ID22392119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:141407491..141407491hg38UCSC Ensembl
chr5:140787058..140787058hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38223
hg19223
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14466342
SamplesHG00733
Known GenesPCDHGA1, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB5
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluY mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3522697
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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