A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5876544



Internal ID22651505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:25124528..25125743hg38UCSC Ensembl
chr2:25347397..25348612hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg381216
hg191216
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17402888
Samples
Known GenesEFR3B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5876544
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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