A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5973938



Internal ID22748873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:41482982..43307552hg38UCSC Ensembl
chr8:41340501..43162695hg19UCSC Ensembl
Cytoband8p11.1
Allele length
AssemblyAllele length
hg381824571
hg191822195
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17430176
Samples
Known GenesAGPAT6, ANK1, AP3M2, CHRNA6, CHRNB3, DKK4, FNTA, GINS4, GOLGA7, HGSNAT, HOOK3, IKBKB, KAT6A, MIR4469, MIR486, MIR486-2, NKX6-3, PLAT, POLB, POMK, POTEA, RNF170, SLC20A2, SMIM19, THAP1, VDAC3
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5973938
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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