A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6539092



Internal ID20912399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:49254626..49283826hg38UCSC Ensembl
chr20:47871163..47900363hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3829201
hg1929201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18202978
Samples
Known GenesSNORD12, SNORD12B, SNORD12C, ZFAS1, ZNFX1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6539092
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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