A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3540521



Internal ID22409657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234325980..234325980hg38UCSC Ensembl
chr1:234461726..234461726hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14440094
SamplesHG00733
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)nsv3540521
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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