A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6465293



Internal ID21122846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:70632688..70635474hg38UCSC Ensembl
chr11:70478793..70481579hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg382787
hg192787
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17992839
Samples
Known GenesSHANK2, SHANK2-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6465293
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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