A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3284179



Internal ID22382539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:41987856..41987932hg38UCSC Ensembl
chr15:42280054..42280130hg19UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14404601
SamplesNA19240
Known GenesPLA2G4E
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)nsv3284179
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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