A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5974647



Internal ID22749582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:127434769..127509002hg38UCSC Ensembl
chr6:127755914..127830147hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg3874234
hg1974234
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17410971
Samples
Known GenesKIAA0408, SOGA3
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT2]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5974647
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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