A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5933687



Internal ID22709001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53753803..53753906hg38UCSC Ensembl
chr12:54147587..54147690hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17356019
Samples
Known GenesCISTR-ACT
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5933687
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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