A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3288152



Internal ID22386563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:77220868..77221225hg38UCSC Ensembl
chr14:77687211..77687568hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38358
hg19358
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2675n152
Supporting Variantsnssv14430418, nssv14465588, nssv14404476
SamplesNA19240, HG00733, HG00514
Known GenesTMEM63C
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)nsv3288152
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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