A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5534510



Internal ID310301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:12913597..12913647hg38UCSC Ensembl
chr17:12816914..12816964hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711517
Samples
Known GenesARHGAP44
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5534510
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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