A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5976780



Internal ID22751715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:87304476..87304476hg38UCSC Ensembl
chr11:87015518..87015518hg19UCSC Ensembl
Cytoband11q14.2
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17356435
Samples
Known GenesTMEM135
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5976780
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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