A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17520976



Internal ID21845335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:147892498..147892498hg38UCSC Ensembl
chr2:148650067..148650067hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg38289
hg19289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6049366
Supporting Variants
Samples
Known GenesACVR2A
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17520976
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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