A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216556



Internal ID22362514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:21183088..21183482hg38UCSC Ensembl
chr14:21651247..21651641hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38395
hg19395
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2545n152
Supporting Variantsnssv14462986
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216556
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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