A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6239331



Internal ID22043941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:38986980..38986980hg38UCSC Ensembl
chr7:39026580..39026580hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38260
hg19260
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17838467
Samples
Known GenesPOU6F2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6239331
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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