A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5430472



Internal ID209280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:81155268..81155482hg38UCSC Ensembl
chrX:80410767..80410981hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg38215
hg19215
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17741024
Samples
Known GenesHMGN5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5430472
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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