A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5541754



Internal ID316313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:11634997..11634997hg38UCSC Ensembl
chrX:11653117..11653117hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38158
hg19158
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17739259
Samples
Known GenesARHGAP6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5541754
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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