A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5605739



Internal ID21554044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:133446650..133446650hg38UCSC Ensembl
chrX:132580678..132580678hg19UCSC Ensembl
CytobandXq26.2
Allele length
AssemblyAllele length
hg3816431
hg1916431
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17165314
SamplesHG00513
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5605739
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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