A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5561478



Internal ID334457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:72736825..72737938hg38UCSC Ensembl
chr6:73446548..73447661hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg381114
hg191114
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16983793
Samples
Known GenesKCNQ5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5561478
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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