A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3542240



Internal ID22411319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:2454622..2454622hg38UCSC Ensembl
chr5:2454736..2454736hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38222
hg19222
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14425017
SamplesHG00514
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)nsv3542240
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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