A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5559714



Internal ID332740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:110348163..110348214hg38UCSC Ensembl
chrX:109591391..109591442hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17741954
Samples
Known GenesAMMECR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5559714
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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