A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5421686



Internal ID200750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:127625450..127752677hg38UCSC Ensembl
chrX:126759431..126886658hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg38127228
hg19127228
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17742318
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5421686
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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