A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17851068



Internal ID22034711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:200548407..200548407hg38UCSC Ensembl
chr2:201413130..201413130hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38235
hg19235
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6253235
Supporting Variants
Samples
Known GenesSGOL2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17851068
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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