A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18231372



Internal ID20798412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:1106414..1832520hg38UCSC Ensembl
chr8:1056414..1780686hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38726107
hg19724273
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6432630
Supporting Variants
Samples
Known GenesARHGEF10, CLN8, DLGAP2, ERICH1-AS1, LOC100507435, LOC286083, MIR596
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18231372
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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