A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15745821



Internal ID21388507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:66797883..66799882hg38UCSC Ensembl
chr17:64794001..64796000hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg382000
hg192000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4432567
Supporting Variants
SamplesNB08
Known GenesPRKCA
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nssv15745821
Frequency
Sample Size15
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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