A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6514425



Internal ID20887778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:19662495..19905171hg38UCSC Ensembl
chr17:19565808..19808484hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38242677
hg19242677
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18190887
Samples
Known GenesAKAP10, ALDH3A1, ALDH3A2, SLC47A2, ULK2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6514425
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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