A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5568336



Internal ID21516683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:76918969..76977224hg38UCSC Ensembl
chr1:77384654..77442909hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3858256
hg1958256
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17066407
SamplesNA18534
Known GenesST6GALNAC5
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5568336
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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