A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17712369



Internal ID136035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28603667..28603967hg38UCSC Ensembl
chr17:26930685..26930985hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38301
hg19301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5525833
Supporting Variants
Samples
Known GenesSPAG5-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17712369
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002342


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