A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17532367



Internal ID21856723
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 StatusS
Merged Variantsnsv5985352
Supporting Variants
Samples
Known GenesEDAR
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17532367
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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