A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5947309



Internal ID22722812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:89910011..89912253hg38UCSC Ensembl
chr14:90376355..90378597hg19UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg382243
hg192243
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17378183
Samples
Known GenesEFCAB11
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5947309
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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