A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5897779



Internal ID22672886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:17949429..17951677hg38UCSC Ensembl
chr6:17949660..17951908hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg382249
hg192249
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17422602
Samples
Known GenesKIF13A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5897779
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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