A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6428587



Internal ID21086140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:11539713..11633714hg38UCSC Ensembl
chr8:11397222..11491223hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3894002
hg1994002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7236n223
Supporting Variantsnssv18222860
Samples
Known GenesBLK, LINC00208
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6428587
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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