A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17712634



Internal ID136300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:32178912..32180057hg38UCSC Ensembl
chr17:30505931..30507076hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg381146
hg191146
Variant TypeOTHER copy number variation
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5421663
Supporting Variants
Samples
Known GenesRHOT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17712634
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.376171


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