A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5883323



Internal ID22658302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:114899664..114899747hg38UCSC Ensembl
chrX:114134227..114134310hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17433888
Samples
Known GenesHTR2C
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5883323
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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