A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5881388



Internal ID22656363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:24094681..24327763hg38UCSC Ensembl
chr2:24317551..24550632hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38233083
hg19233082
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17409516
Samples
Known GenesFAM228A, FAM228B, ITSN2, PFN4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5881388
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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