A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3288597



Internal ID22387010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:56110740..56110945hg38UCSC Ensembl
chr15:56402938..56403143hg19UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg38206
hg19206
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14430294
SamplesHG00514
Known GenesRFX7
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)nsv3288597
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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