A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5619316



Internal ID21567621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:30310857..30310857hg38UCSC Ensembl
chrX:30328974..30328974hg19UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg38136
hg19136
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17166983
SamplesNA24385
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5619316
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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