A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17712368



Internal ID136034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28600444..28606839hg38UCSC Ensembl
chr17:26927462..26933857hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg386396
hg196396
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5529290
Supporting Variants
Samples
Known GenesSPAG5-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17712368
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001721


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