A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18187753



Internal ID20754793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:66680919..66689416hg38UCSC Ensembl
chr11:66448390..66456887hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg388498
hg198498
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6464737
Supporting Variants
Samples
Known GenesSPTBN2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18187753
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00015


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