A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5470145



Internal ID247916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:142429551..143065626hg38UCSC Ensembl
chr5:141809116..142445191hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38636076
hg19636076
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16974163
Samples
Known GenesARHGAP26, ARHGAP26-AS1, FGF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5470145
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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