A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6242147



Internal ID22046757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:11317127..11317127hg38UCSC Ensembl
chr2:11457253..11457253hg19UCSC 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 Variantsnssv17848647
Samples
Known GenesROCK2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6242147
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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