A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5985708



Internal ID21895051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:118093984..118094164hg38UCSC Ensembl
chr2:118851560..118851740hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38181
hg19181
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17529624
Samples
Known GenesINSIG2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5985708
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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