A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5416049



Internal ID195290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:57487632..57487722hg38UCSC Ensembl
chrX:57514065..57514155hg19UCSC Ensembl
CytobandXp11.21
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17740309
Samples
Known GenesFAAH2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5416049
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer