A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5963220



Internal ID22738155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:69215284..69215284hg38UCSC Ensembl
chr3:69264435..69264435hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg38196
hg19196
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17411179
Samples
Known GenesFRMD4B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5963220
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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