A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17412431



Internal ID22470301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:69310582..69310582hg38UCSC Ensembl
chr3:69359733..69359733hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg38162
hg19162
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5952676
Supporting Variants
Samples
Known GenesFRMD4B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17412431
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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