A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18217457



Internal ID20784497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:10792792..10862284hg38UCSC Ensembl
chr8:10650302..10719794hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3869493
hg1969493
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6431284
Supporting Variants
Samples
Known GenesMIR1322, PINX1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18217457
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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