A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6053592



Internal ID21962825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:47212965..47212965hg38UCSC Ensembl
chrX:47072364..47072364hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17643057
Samples
Known GenesUBA1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6053592
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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