A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6046088



Internal ID21955333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:208288167..208288167hg38UCSC Ensembl
chr2:209152891..209152891hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17534670
Samples
Known GenesPIKFYVE
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6046088
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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