A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6253552



Internal ID22058162
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 StatusM
Merged Variants
Supporting Variantsnssv17853449
Samples
Known GenesLRRFIP1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6253552
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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