A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6459321



Internal ID21116874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:70519691..70612998hg38UCSC Ensembl
chr11:70365796..70459103hg19UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg3893308
hg1993308
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18181920
Samples
Known GenesSHANK2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6459321
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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