A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17371263



Internal ID22596932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:66406585..66406585hg38UCSC Ensembl
chr17:64402703..64402703hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38242
hg19242
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5968958
Supporting Variants
Samples
Known GenesPRKCA
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17371263
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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