A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6252511



Internal ID22057121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:62830133..62830133hg38UCSC Ensembl
chr2:63057268..63057268hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17850186
Samples
Known GenesEHBP1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6252511
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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