A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6501864



Internal ID20875102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:42977806..42980930hg38UCSC Ensembl
chr17:41129823..41132947hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg383125
hg193125
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18187298
Samples
Known GenesPTGES3L, PTGES3L-AARSD1, RUNDC1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6501864
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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