A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6243220



Internal ID22047830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:147987170..147987170hg38UCSC Ensembl
chr2:148744739..148744739hg19UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg38149
hg19149
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17853847
Samples
Known GenesORC4
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6243220
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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