A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5427133



Internal ID206042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:130377232..130397927hg38UCSC Ensembl
chrX:129511206..129531901hg19UCSC Ensembl
CytobandXq26.1
Allele length
AssemblyAllele length
hg3820696
hg1920696
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17737572
Samples
Known GenesGPR119
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5427133
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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