A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16981142



Internal ID54800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:17971082..17972751hg38UCSC Ensembl
chr6:17971313..17972982hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg381670
hg191670
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5469527
Supporting Variants
Samples
Known GenesKIF13A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16981142
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000624


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