A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5905211



Internal ID22680395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201649160..201654260hg38UCSC Ensembl
chr2:202513883..202518983hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg385101
hg195101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17398389
Samples
Known GenesMPP4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5905211
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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