A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5403904



Internal ID183263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:127456854..127456905hg38UCSC Ensembl
chr6:127777999..127778050hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16969066
Samples
Known GenesKIAA0408, SOGA3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5403904
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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