A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3538264



Internal ID22407453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:2386587..2386587hg38UCSC Ensembl
chr7:2426222..2426222hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38116
hg19116
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14401337
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3538264
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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