A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17712372



Internal ID136038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28650846..28651126hg38UCSC Ensembl
chr17:26977864..26978144hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5525068
Supporting Variants
Samples
Known GenesSDF2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17712372
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000469


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