A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17847446



Internal ID22031089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:28323378..28323378hg38UCSC Ensembl
chr2:28546245..28546245hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg38272
hg19272
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6242309
Supporting Variants
Samples
Known GenesBRE
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17847446
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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