A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5608654



Internal ID21556959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:80379095..80379095hg38UCSC Ensembl
chrX:79634594..79634594hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17168450
SamplesHG03065
Known GenesFAM46D
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5608654
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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