A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3523381



Internal ID22392808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:140215542..140215542hg38UCSC Ensembl
chr5:139595127..139595127hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14462911
SamplesHG00733
Known GenesCYSTM1
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)nsv3523381
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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