A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5978814



Internal ID22753749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:47299623..47299623hg38UCSC Ensembl
chr11:47321174..47321174hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17367421
Samples
Known GenesMADD
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5978814
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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