A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3256n223



Internal ID22806224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80719901..80724562hg38UCSC Ensembl
chr17:78693701..78698362hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg384662
hg194662
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6524859, nsv6518906
Samples
Known GenesRPTOR
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv3256n223
Frequency
Sample Size19652
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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