A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6257066



Internal ID22061676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:116577523..116577523hg38UCSC Ensembl
chr6:116898686..116898686hg19UCSC Ensembl
Cytoband6q22.1
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 Variantsnssv17857453
Samples
Known GenesRWDD1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6257066
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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