A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6242020



Internal ID22046630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:9625075..9625075hg38UCSC Ensembl
chr2:9765204..9765204hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17847999
Samples
Known GenesYWHAQ
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6242020
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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