A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14429926



Internal ID22171844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:93722000..93722070hg38UCSC Ensembl
chr14:94188346..94188416hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3283348
Supporting Variants
SamplesHG00514
Known GenesPRIMA1
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)nssv14429926
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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