A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5605499



Internal ID21553804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:152275142..152275142hg38UCSC Ensembl
chrX:151443614..151443614hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38191
hg19191
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17166507
SamplesNA19239
Known GenesGABRA3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5605499
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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