A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4389750



Internal ID21380885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:69897913..69898433hg38UCSC Ensembl
chr2:70125045..70125565hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg38521
hg19521
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15706604
Samples
Known GenesSNRNP27
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceWong_et_al_2019
Pubmed ID31340865
Accession Number(s)nsv4389750
Frequency
Sample Size174
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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