A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224742



Internal ID22368080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:101775964..101787543hg38UCSC Ensembl
chr14:102242301..102253880hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg3811580
hg1911580
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2759n152
Supporting Variantsnssv14429952
SamplesHG00514
Known GenesPPP2R5C
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224742
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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