A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6422053



Internal ID21079606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:130912185..131685441hg38UCSC Ensembl
chr8:131924431..132697688hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg38773257
hg19773258
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7494n223
Supporting Variantsnssv18222040
Samples
Known GenesADCY8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6422053
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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