A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6239672



Internal ID22044282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:123474563..123474563hg38UCSC Ensembl
chr7:123114617..123114617hg19UCSC Ensembl
Cytoband7q31.32
Allele length
AssemblyAllele length
hg38273
hg19273
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17839770
Samples
Known GenesIQUB
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6239672
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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