A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17406258



Internal ID22464128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:134811242..134811242hg38UCSC Ensembl
chr3:134530084..134530084hg19UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg38179
hg19179
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5961998
Supporting Variants
Samples
Known GenesEPHB1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17406258
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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