A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17712354



Internal ID136020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28403654..28403705hg38UCSC Ensembl
chr17:26730672..26730723hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38367
hg19367
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5556632
Supporting Variants
Samples
Known GenesSLC46A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17712354
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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