A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5604553



Internal ID21553223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:23002080..23002080hg38UCSC Ensembl
chrX:23020197..23020197hg19UCSC Ensembl
CytobandXp22.11
Allele length
AssemblyAllele length
hg38375
hg19375
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17166702
SamplesHG00731
Known GenesDDX53, LOC100873065
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5604553
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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