A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3536289



Internal ID22405521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:246642837..246642837hg38UCSC Ensembl
chr1:246806139..246806139hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38997
hg19997
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14414069, nssv14440753, nssv14373145
SamplesNA19240, HG00733, HG00514
Known GenesCNST
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)nsv3536289
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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