A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4758420



Internal ID20534280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:53578315..53578645hg38UCSC Ensembl
chrX:53605275..53605605hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16269670
Samples
Known GenesHUWE1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4758420
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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