A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5469987



Internal ID247760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:147733158..147733464hg38UCSC Ensembl
chr4:148654309..148654615hg19UCSC Ensembl
Cytoband4q31.23
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16956956
Samples
Known GenesARHGAP10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5469987
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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