A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17386099



Internal ID22443969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:55038729..55038729hg38UCSC Ensembl
chr17:53116090..53116090hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5978567
Supporting Variants
Samples
Known GenesSTXBP4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17386099
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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