A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6429445



Internal ID21086998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:130703787..130993509hg38UCSC Ensembl
chr8:131716033..132005755hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg38289723
hg19289723
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18228514
Samples
Known GenesADCY8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6429445
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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