A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5975307



Internal ID22750242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:94696252..94702687hg38UCSC Ensembl
chr8:95708480..95714915hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg386436
hg196436
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17435879
Samples
Known GenesESRP1
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5975307
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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