A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17011162



Internal ID75088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:29203784..29219927hg38UCSC Ensembl
chr8:29061301..29077444hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg3816144
hg1916144
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5486039
Supporting Variants
Samples
Known GenesKIF13B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17011162
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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