A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17522215



Internal ID21846574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:157862573..157862886hg38UCSC Ensembl
chr2:158719085..158719398hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg38314
hg19314
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5986474
Supporting Variants
Samples
Known GenesACVR1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17522215
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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