A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18184601



Internal ID20751641
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 StatusS
Merged Variantsnsv6469639
Supporting Variants
Samples
Known GenesSHANK2, SHANK2-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18184601
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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