A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17013703



Internal ID76814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:66044455..66044515hg38UCSC Ensembl
chr8:66956690..66956750hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5480854
Supporting Variants
Samples
Known GenesDNAJC5B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17013703
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001249


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