A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3531227



Internal ID22400589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45539025..45539025hg38UCSC Ensembl
chr1:46004697..46004697hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14413608, nssv14413609
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)nsv3531227
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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