A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5415610



Internal ID194866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:130701381..130963381hg38UCSC Ensembl
chrX:129835355..130097355hg19UCSC Ensembl
CytobandXq26.1
Allele length
AssemblyAllele length
hg38262001
hg19262001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17737588
Samples
Known GenesENOX2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5415610
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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