A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17737588



Internal ID161254
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 StatusS
Merged Variantsnsv5415610
Supporting Variants
Samples
Known GenesENOX2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17737588
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00104537


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