A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5568319



Internal ID21516666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:45726859..45727183hg38UCSC Ensembl
chr3:45768351..45768675hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17125589
SamplesHG00731
Known GenesSACM1L
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5568319
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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