A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6422098



Internal ID21079651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:117923620..118462956hg38UCSC Ensembl
chr8:118935859..119475195hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg38539337
hg19539337
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18219307
Samples
Known GenesEXT1, SAMD12
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6422098
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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