A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6240816



Internal ID22045426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:26972883..26972883hg38UCSC Ensembl
chr12:27125816..27125816hg19UCSC Ensembl
Cytoband12p11.23
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 Variantsnssv17845361
Samples
Known GenesTM7SF3
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6240816
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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