A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5614266



Internal ID21562571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:43713918..43713918hg38UCSC Ensembl
chrX:43573165..43573165hg19UCSC Ensembl
CytobandXp11.3
Allele length
AssemblyAllele length
hg38998
hg19998
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17167277
SamplesHG01596
Known GenesMAOA
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5614266
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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