A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17706704



Internal ID130370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:1712126..1722714hg38UCSC Ensembl
chr16:1762127..1772715hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3810589
hg1910589
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5514671
Supporting Variants
Samples
Known GenesMAPK8IP3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17706704
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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