A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6349198



Internal ID21006751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:171333261..171337071hg38UCSC Ensembl
chr2:172189771..172193581hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg383811
hg193811
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18207405
Samples
Known GenesMETTL8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6349198
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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