A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5985352



Internal ID21894695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:108987134..108987470hg38UCSC Ensembl
chr2:109603590..109603926hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg38337
hg19337
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17532367
Samples
Known GenesEDAR
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5985352
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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