A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6143285



Internal ID342486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:183000..248000hg38UCSC Ensembl
chr11:183000..248000hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3865001
hg1965001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17043550
Samples
Known GenesBET1L, LOC653486, MIR6743, ODF3, PSMD13, RIC8A, SCGB1C1, SIRT3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6143285
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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