A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5974786



Internal ID22749721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:73163181..73165502hg38UCSC Ensembl
chr6:73872904..73875225hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg382322
hg192322
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17433276
Samples
Known GenesKCNQ5
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5974786
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer