A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17443950



Internal ID22501820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:16757558..16779381hg38UCSC Ensembl
chrX:16775681..16797504hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg3821824
hg1921824
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5872627
Supporting Variants
Samples
Known GenesSYAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17443950
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002


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