A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6335204



Internal ID20868396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:233074550..233081301hg38UCSC Ensembl
chr1:233210296..233217047hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg386752
hg196752
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18202371
Samples
Known GenesPCNXL2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6335204
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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