A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18277314



Internal ID20844354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:1445480..4860076hg38UCSC Ensembl
chr8:1393646..4717598hg19UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg383414597
hg193323953
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6556298
Supporting Variants
Samples
Known GenesARHGEF10, CLN8, CSMD1, DLGAP2, KBTBD11, LOC100507435, MIR596, MIR7160, MYOM2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18277314
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0


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