A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5946823



Internal ID22722320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:66780554..66786740hg38UCSC Ensembl
chr17:64776672..64782858hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg386187
hg196187
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17388038
Samples
Known GenesPRKCA
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5946823
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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