A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6419983



Internal ID21077536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:109482094..109564342hg38UCSC Ensembl
chr8:110494323..110576571hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg3882249
hg1982249
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18218228
Samples
Known GenesEBAG9, PKHD1L1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6419983
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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