A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6245421



Internal ID22050031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:165204236..165204236hg38UCSC Ensembl
chr1:165173473..165173473hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38276
hg19276
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17839017
Samples
Known GenesLMX1A
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6245421
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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