A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5418013



Internal ID197195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:133628242..133629673hg38UCSC Ensembl
chrX:132762270..132763701hg19UCSC Ensembl
CytobandXq26.2
Allele length
AssemblyAllele length
hg381432
hg191432
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17742409
Samples
Known GenesGPC3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5418013
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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