A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3541019



Internal ID22410136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:120723672..120723672hg38UCSC Ensembl
chr2:121481248..121481248hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14422276, nssv14447678, nssv14395332
SamplesNA19240, HG00733, 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)nsv3541019
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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