A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216412



Internal ID22362413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:49114203..49114266hg38UCSC Ensembl
chr15:49406400..49406463hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14404617
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216412
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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