A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3534151



Internal ID22403443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:169326218..169326218hg38UCSC Ensembl
chr2:170182728..170182728hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14394891
SamplesNA19240
Known GenesLRP2
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)nsv3534151
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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