A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17443173



Internal ID22501043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:131348092..131861518hg38UCSC Ensembl
chrX:130482066..130995546hg19UCSC Ensembl
CytobandXq26.2
Allele length
AssemblyAllele length
hg38513427
hg19513481
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5878163
Supporting Variants
Samples
Known GenesLOC286467, OR13H1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17443173
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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