A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6469639



Internal ID21127192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:70632185..70653036hg38UCSC Ensembl
chr11:70478290..70499141hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg3820852
hg1920852
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18184601
Samples
Known GenesSHANK2, SHANK2-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6469639
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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