A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6432341



Internal ID21089894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:6475935..6479684hg38UCSC Ensembl
chr8:6333456..6337205hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg383750
hg193750
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18169474
Samples
Known GenesMCPH1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6432341
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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