A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3521456



Internal ID22390871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:138789840..138789840hg38UCSC Ensembl
chr7:138474585..138474585hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38174
hg19174
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14462186, nssv14402616
SamplesNA19240, HG00733
Known GenesATP6V0A4
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)nsv3521456
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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