A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5985557



Internal ID21894900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:11144407..11144705hg38UCSC Ensembl
chr2:11284533..11284831hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38299
hg19299
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17535191
Samples
Known GenesC2orf50
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5985557
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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