A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5469647



Internal ID247426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:150757213..150758624hg38UCSC Ensembl
chr6:151078349..151079760hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg381412
hg191412
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16989965
Samples
Known GenesPLEKHG1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5469647
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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