A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6350933



Internal ID21008486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:200487501..200493200hg38UCSC Ensembl
chr2:201352224..201357923hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg385700
hg195700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18208282
Samples
Known GenesKCTD18
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6350933
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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