A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6504282



Internal ID20877543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:18309782..18339639hg38UCSC Ensembl
chr17:18213096..18242953hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3829858
hg1929858
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18193951
Samples
Known GenesSHMT1, SMCR8, TOP3A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6504282
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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