A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6336959



Internal ID20994512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127188752..127225602hg38UCSC Ensembl
chr2:127946328..127983178hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3836851
hg1936851
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18207630
Samples
Known GenesCYP27C1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6336959
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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