A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5500852



Internal ID277775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:92971153..92974845hg38UCSC Ensembl
chr11:92704319..92708011hg19UCSC Ensembl
Cytoband11q14.3
Allele length
AssemblyAllele length
hg383693
hg193693
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17052024
Samples
Known GenesMTNR1B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5500852
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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