A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17518711



Internal ID21843070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:191847114..191851807hg38UCSC Ensembl
chr2:192711840..192716533hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg384694
hg194694
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5987210
Supporting Variants
Samples
Known GenesSDPR
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17518711
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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