A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18181920



Internal ID20748960
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 StatusS
Merged Variantsnsv6459321
Supporting Variants
Samples
Known GenesSHANK2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18181920
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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