A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17515459



Internal ID22573420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:13594884..13596012hg38UCSC Ensembl
chrX:13613003..13614131hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg381129
hg191129
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5974149
Supporting Variants
Samples
Known GenesEGFL6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17515459
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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