A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18039193



Internal ID20606233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:81650201..81651700hg38UCSC Ensembl
chr17:79617231..79618730hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg381500
hg191500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6530406
Supporting Variants
Samples
Known GenesPDE6G
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18039193
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00049


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