A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5422083



Internal ID201137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:71429278..71430343hg38UCSC Ensembl
chrX:70649128..70650193hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg381066
hg191066
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17740652
Samples
Known GenesBCYRN1, TAF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5422083
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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