A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17737608



Internal ID161274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:131334000..131840381hg38UCSC Ensembl
chrX:130467974..130974409hg19UCSC Ensembl
CytobandXq26.2
Allele length
AssemblyAllele length
hg38506382
hg19506436
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5414094
Supporting Variants
Samples
Known GenesLOC286467, OR13H1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17737608
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00125339


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