A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17715568



Internal ID139234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:81300000..81303547hg38UCSC Ensembl
chr17:79273800..79277347hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg383548
hg193548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5520262
Supporting Variants
Samples
Known GenesLINC00482
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17715568
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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