A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17430176



Internal ID22488046
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 StatusS
Merged Variantsnsv5973938
Supporting Variants
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)nssv17430176
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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