A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5554911



Internal ID328082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:103713564..103713615hg38UCSC Ensembl
chrX:102968492..102968543hg19UCSC Ensembl
CytobandXq22.2
Allele length
AssemblyAllele length
hg38234
hg19234
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17741789
Samples
Known GenesGLRA4, TMEM31
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5554911
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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