A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5568524



Internal ID21516873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:210121958..210122276hg38UCSC Ensembl
chr1:210295303..210295621hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17062644
SamplesHG00731
Known GenesSYT14
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5568524
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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