A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17711312



Internal ID134978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:9269003..9269003hg38UCSC Ensembl
chr17:9172320..9172320hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5536178
Supporting Variants
Samples
Known GenesSTX8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17711312
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.018148


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