A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3530387



Internal ID22399770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:3293812..3293812hg38UCSC Ensembl
chr4:3295539..3295539hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38141
hg19141
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14397616
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)nsv3530387
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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