A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15749933



Internal ID21385726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:107590275..107591274hg38UCSC Ensembl
chr11:107461001..107462000hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg381000
hg191000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4431425
Supporting Variants
SamplesBTQ055
Known GenesELMOD1
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nssv15749933
Frequency
Sample Size15
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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