A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5427648



Internal ID206549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:50717582..50718714hg38UCSC Ensembl
chrX:50460582..50461714hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg381133
hg191133
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17736927
Samples
Known GenesSHROOM4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5427648
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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