A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3541159



Internal ID22410272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:151769286..151769286hg38UCSC Ensembl
chr1:151741762..151741762hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14377342, nssv14441302, nssv14413248
SamplesNA19240, HG00733, HG00514
Known GenesOAZ3
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)nsv3541159
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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