A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5979072



Internal ID22754007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:126804788..127311625hg38UCSC Ensembl
chr8:127817033..128323870hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg38506838
hg19506838
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17435150
Samples
Known GenesCCAT1, PCAT1
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5979072
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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