A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17711473



Internal ID135139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:12119000..12272000hg38UCSC Ensembl
chr17:12022317..12175317hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg38153001
hg19153001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5518505
Supporting Variants
Samples
Known GenesMAP2K4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17711473
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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