A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3541293



Internal ID22410403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:157178624..157178624hg38UCSC Ensembl
chr3:156896413..156896413hg19UCSC Ensembl
Cytoband3q25.31
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14450544, nssv14423570
SamplesHG00733, HG00514
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)nsv3541293
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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