A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18178212



Internal ID20745252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:199338..415653hg38UCSC Ensembl
chr11:199338..415653hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38216316
hg19216316
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6438326
Supporting Variants
Samples
Known GenesATHL1, B4GALNT4, BET1L, IFITM1, IFITM2, IFITM3, IFITM5, MIR6743, NLRP6, ODF3, PKP3, PSMD13, RIC8A, SIGIRR, SIRT3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18178212
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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