A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5419728



Internal ID198854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:131626128..131681494hg38UCSC Ensembl
chrX:130760130..130815508hg19UCSC Ensembl
CytobandXq26.2
Allele length
AssemblyAllele length
hg3855367
hg1955379
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17737616
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5419728
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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