A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5418712



Internal ID197872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:71220655..71221045hg38UCSC Ensembl
chrX:70440505..70440895hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg38391
hg19391
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17740645
Samples
Known GenesBCYRN1, GJB1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5418712
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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