A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5423088



Internal ID202114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:135970263..135970795hg38UCSC Ensembl
chrX:135052422..135052954hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg38533
hg19533
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17742517
Samples
Known GenesMMGT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5423088
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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