A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5979060



Internal ID22753995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:45971890..45971890hg38UCSC Ensembl
chr11:45993441..45993441hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38177
hg19177
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17367710
Samples
Known GenesPHF21A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5979060
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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