A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17027232



Internal ID85873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:127640978..127641016hg38UCSC Ensembl
chr9:130403257..130403295hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg38615
hg19615
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5549861
Supporting Variants
Samples
Known GenesSTXBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17027232
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001717


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