A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18143294



Internal ID20710334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:17986601..17988300hg38UCSC Ensembl
chr6:17986832..17988531hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg381700
hg191700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6402150
Supporting Variants
Samples
Known GenesKIF13A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18143294
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0266


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