A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18189287



Internal ID20756327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:161801..288600hg38UCSC Ensembl
chr11:161801..288600hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38126800
hg19126800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6441989
Supporting Variants
Samples
Known GenesBET1L, LOC653486, MIR6743, NLRP6, ODF3, PSMD13, RIC8A, SCGB1C1, SIRT3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18189287
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00016


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