A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5418295



Internal ID197470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:44531273..44531786hg38UCSC Ensembl
chrX:44390519..44391032hg19UCSC Ensembl
CytobandXp11.3
Allele length
AssemblyAllele length
hg38514
hg19514
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17736665
Samples
Known GenesFUNDC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5418295
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