A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17853449



Internal ID22037092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237763352..237763352hg38UCSC Ensembl
chr2:238671995..238671995hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38267
hg19267
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6253552
Supporting Variants
Samples
Known GenesLRRFIP1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17853449
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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